Full data view for gene PAH

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

3 entries on 1 page. Showing entries 1 - 3.
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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.2T>G r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.103310907A>C g.102917129A>C M1R - PAH_000562 - PubMed: Hennermann 2000 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU Pat13 PubMed: Hennermann 2000 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.2T>G r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.103310907A>C g.102917129A>C M1R - PAH_000562 - PubMed: Hennermann 2000 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU PatLJ PubMed: Hennermann 2000 - - - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.2T>G r.(?) p.(Met1?) Unknown - pathogenic (recessive) g.103310907A>C g.102917129A>C (Met1Arg) - PAH_000562 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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