Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ATM

Gene name: ataxia telangiectasia mutated
OMIM ID: 607585
Chromosome location: 11q22.3

Mutations

Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.103C>A
A.A. Changep.Arg35Stop
Exon/Intronexon 3
Mutation Typesubstitution
ReferenceGilad S, Bar-Shira A, Harnik R, Shkedy D, Ziv Y, Khosravi R, Brown K, Vanagaite L, Xu G, Frydman M, Lavin MF, Hill D, Tagle DA, Shiloh Y.Ataxia-telangiectasia: founder effect among north African Jews.
Hum Mol Genet. 1996 Dec;5(12):2033-7.
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.1402_1403delAA
A.A. Changep.Lys468GlufsX18
Exon/Intronexon12
Mutation Typedeletion
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.2921+1G>A
A.A. Changep.Tyr947GlnfsX9
Exon/Intronintron 21
Mutation Typesubstitution
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.3272_3184+3del16
A.A. Changep.Glu1091AspfsX14
Exon/Intronexon 24
Mutation Typedeletion
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.5644C>T
A.A. Changep.Arg1882X
Exon/Intronexon 39
Mutation Typesubstitution
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.5692C>T
A.A. Changep.Arg1898X
Exon/Intronexon 40
Mutation Typesubstitution
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.6776_6777dupCT
A.A. Changep.Ile2260LeufsX51
Exon/Intronexon 48
Mutation Typeduplication
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.6873G>A
A.A. Changep.Trp2291X
Exon/Intronexon 49
Mutation Typesubstitution
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.7886_7889del5
A.A. Changep.Ile2629SerfsX25
Exon/Intronexon 55
Mutation Typedeletion
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.7985T>A
A.A. Changep.Val2662Asp
Exon/Intronexon 56
Mutation Typesubstitution
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.8236_8239delinsTCCCT
A.A. Changep.Arg2746SerfsX11
Exon/Intronexon 58
Mutation Typeindel
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.8535G>A
A.A. Changep.Trp2845X
Exon/Intronexon 60
Mutation Typesubstitution
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.8585-2A>C
A.A. Change
Exon/Intronintron 60
Mutation Typesubstitution
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.8659C>G
A.A. Changep.His2887Asp
Exon/Intronexon 61
Mutation Typesubstitution
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia with isolated vitamin E deficiency
Reference transcriptNM_000051.3
DNA Changec.8977C>T
A.A. Changep.Arg2993X
Exon/Intronexon 64
Mutation Typesubstitution
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)

Polymorphisms

Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA ChangeIVS04+36_37 insAA
A.A. Change
Exon/Intronintron 4
Variation Typeinsertion
Reference SNPrs2066734
Cases27 patients from 22 unrelated families
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
insAA76,5%
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA ChangeIVS25-13dupA
A.A. Change
Exon/Intronintron 25
Variation Typeduplication
Reference SNPrs4987984
Cases27 patients from 22 unrelated families
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
dupA35.3%
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.1254A>G
A.A. Changep.Gln418Gln
Exon/Intronexon 12
Variation Typesubstitution
Reference SNPrs4987943
Cases27 patients from 22 unrelated families
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G23,5%
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.5557G>A
A.A. Changep.Asp1853Asn
Exon/Intronexon 39
Variation Typesubstitution
Reference SNPrs1801516
Cases27 patients from 22 unrelated families
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A16,7%
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.1810C>T
A.A. Changep.Pro604Ser
Exon/Intronexon 14
Variation Typesubstitution
Reference SNPrs2227922
Cases27 patients from 22 unrelated families
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T5,9%
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.3242A>G
A.A. Changep.Asn1081Ser
Exon/Intronexon 24
Variation Typesubstitution
Cases27 patients from 22 unrelated families
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G5,9%
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.4042T>C
A.A. Changep.Leu1348Leu
Exon/Intronexon 29
Variation Typesubstitution
Reference SNPrs56355831
Cases27 patients from 22 unrelated families
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C5,9%
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.2921+19_2921+20insA
A.A. Change
Exon/Intronintron 24
Variation Typeduplication
Reference SNPrs56112367
Cases27 patients from 22 unrelated families
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
dupA5,9%
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.3285-10delT
A.A. Change
Exon/Intronintron 24
Variation Typedeletion
Reference SNPrs1799757
Cases27 patients from 22 unrelated families
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
delT5,9%
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.3747-34A>G
A.A. Change
Exon/Intronintron 27
Variation Typesubstitution
Reference SNPrs3092840
Cases27 patients from 22 unrelated families
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G5,9%
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)
Disease/PhenotypeAtaxia-telangiectasia
Reference transcriptNM_000051.3
DNA Changec.8419-19A>G
A.A. Change
Exon/Intronintron 59
Variation Typesubstitution
Reference SNPrs12279930
Cases27 patients from 22 unrelated families
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G5,9%
ReferenceJeddane L, Ailal F, Dubois-d?Enghien C, Abidi O, Benhsaien I, Kili A, Chaouki S, Kriouile Y,El Hafidi N, Fadil H, Abilkassem R, Rada N, Bousfiha AA, Barakat A, Stoppa-Lyonnet D, Bellaoui H.Molecular defects in Moroccan patients with Ataxia-Telangiectasia
NeuroMolecular Medicine (Article in press)