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

PAH

Gene name: phenylalanine hydroxylase
OMIM ID: 612349
Chromosome location: 12q23.2

Mutations

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.1055delG
A.A. ChangeG352fsdelG
Exon/Intronexon 10
Mutation Typedeletion
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.1066-11G>A
A.A. ChangeSplicing
Exon/Intronintron 10
Mutation Typesubstitution
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.1223G>A
A.A. Changep.Arg408Gln
Exon/Intronexon 12
Mutation Typesubstitution
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.253A>T
A.A. Changep.Lys85Stop
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.359G>A
A.A. Changep.Trp120XStop
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.434A>T
A.A. Changep.Asp145Val
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.434A>T
A.A. Changep.Asp145Val
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.493G>A
A.A. Changep.Ala165Thr
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.526C>T
A.A. Changep.Arg176Stop
Exon/Intronexon 6
Mutation Typesubstitution
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.586T>A
A.A. Changep.Ser196Thr
Exon/Intronexon 6
Mutation Typesubstitution
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.593_614del
A.A. Changep.Tyr198CysfsX136
Exon/Intronexon 6
Mutation Typedeletion
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.727C>T
A.A. Changep.Arg243Stop
Exon/Intronexon 7
Mutation Typesubstitution
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
Reference transcriptNM_000277.1
DNA Changec.773T>C
A.A. Changep.Leu258Pro
Exon/Intronexon 7
Mutation Typesubstitution
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.

Disease/PhenotypePhenylketonuria
DNA ChangeExon deletion
A.A. Change
Exon/Intronexon 3
Mutation Typedeletion
ReferenceDahri S, Desviat LR, Perez B, Leal F, Ugarte M, Chabraoui L.Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Clin Biochem. 2010 Jan;43(1-2):76-81.


  Variant not named according to HGVS recommendations