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

LDLR

Gene name: low density lipoprotein receptor
OMIM ID: 606945
Chromosome location: 19p13.2

Mutations

Disease/PhenotypeHypercholesterolemia, familial
Reference transcriptNM_000527.4
DNA Changec.1171G>A
A.A. Changep.Ala391Thr
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceEl Messal M, Ait Chihab K, Chater R, Vallve JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabes JP, Kettani A, Boileau C, Masana L, Adlouni A.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.
J Hum Genet. 2003;48(4):199-203.
Disease/PhenotypeHypercholesterolemia, familial
Reference transcriptNM_000527.4
DNA Changec.138C>A
A.A. Changep.Cys46Stop
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceChater R, Ait Chihab K, Rabes JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
Clin Chim Acta. 2006 Nov;373(1-2):62-9.
Disease/PhenotypeHypercholesterolemia, familial
Reference transcriptNM_000527.4
DNA Changec.1502C>A
A.A. Changep.Ala501Glu
Exon/Intronexon 10
Mutation Typesubstitution
ReferenceChater R, Ait Chihab K, Rabes JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
Clin Chim Acta. 2006 Nov;373(1-2):62-9.
Disease/PhenotypeHypercholesterolemia, familial
Reference transcriptNM_000527.4
DNA Changec.1736A>C
A.A. Changep.Asp579Ala
Exon/Intronexon 12
Mutation Typesubstitution
ReferenceChater R, Ait Chihab K, Rabes JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
Clin Chim Acta. 2006 Nov;373(1-2):62-9.
Disease/PhenotypeHypercholesterolemia, familial
Reference transcriptNM_000527.4
DNA Changec.2054G>C
A.A. Changep.Pro664Leu
Exon/Intronexon 14
Mutation Typesubstitution
ReferenceEl Messal M, Ait Chihab K, Chater R, Vallve JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabes JP, Kettani A, Boileau C, Masana L, Adlouni A.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.
J Hum Genet. 2003;48(4):199-203.
Disease/PhenotypeHypercholesterolemia, familial
Reference transcriptNM_000527.4
DNA Changec.2132C>T
A.A. Changep.Cys690Ser
Exon/Intronexon 14
Mutation Typesubstitution
ReferenceEl Messal M, Ait Chihab K, Chater R, Vallve JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabes JP, Kettani A, Boileau C, Masana L, Adlouni A.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.
J Hum Genet. 2003;48(4):199-203.
Disease/PhenotypeHypercholesterolemia, familial
Reference transcriptNM_000527.4
DNA Changec.313+5G>T
A.A. Change
Exon/Intronintron 3
Mutation Typesubstitution
ReferenceChater R, Ait Chihab K, Rabes JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
Clin Chim Acta. 2006 Nov;373(1-2):62-9.
Disease/PhenotypeHypercholesterolemia, familial
Reference transcriptNM_000527.4
DNA Changec.400T>C
A.A. Changep.Cys134Arg
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceEl Messal M, Ait Chihab K, Chater R, Vallve JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabes JP, Kettani A, Boileau C, Masana L, Adlouni A.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.
J Hum Genet. 2003;48(4):199-203.
Disease/PhenotypeHypercholesterolemia, familial
Reference transcriptNM_000527.4
DNA Changec.514G>A
A.A. Changep.Asp172Asn
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceChater R, Ait Chihab K, Rabes JP, Varret M, Chabraoui L, El Jahiri Y, Adlouni A, Boileau C, Kettani A, El Messal M.Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco.
Clin Chim Acta. 2006 Nov;373(1-2):62-9.
Disease/PhenotypeHypercholesterolemia, familial
Reference transcriptNM_000527.4
DNA Changec.859G>T
A.A. Changep.Gly287Cys
Exon/Intronexon 6
Mutation Typesubstitution
ReferenceEl Messal M, Ait Chihab K, Chater R, Vallve JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabes JP, Kettani A, Boileau C, Masana L, Adlouni A.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.
J Hum Genet. 2003;48(4):199-203.
Disease/PhenotypeHypercholesterolemia, familial
DNA ChangeLarge deletions
A.A. Change
Exon/Intron
Mutation Typedeletion
ReferenceEl Messal M, Ait Chihab K, Chater R, Vallve JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabes JP, Kettani A, Boileau C, Masana L, Adlouni A.Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.
J Hum Genet. 2003;48(4):199-203.

  Variant not named according to HGVS recommendations