Full data view for gene PAH

Information The variants shown are described using the NM_000277.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.1012G>T r.(?) p.(Asp338Tyr) Parent #2 - pathogenic (recessive) g.103238167C>A - - - PAH_000297 - PubMed: Trujillano 2014 - rs62516150 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU C2 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 10 c.1012G>T r.(?) p.(Asp338Tyr) Unknown - pathogenic (recessive) g.103238167C>A g.102844389C>A - - PAH_000297 allelic phenotype value 5.4, variant associated with mild PKU PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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