Annotation Detail

Information

Associated Genes: PAH
Associated Variants: PAH p.Arg408Trp (p.R408W) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Arg408Trp (p.R408W) ( ENST00000307000.7, ENST00000553106.6 )
Associated Disease: phenylketonuria
Source Database: ClinVar
Description: NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) AND Phenylketonuria
Observed Origin Sample: inherited
Observed Origin Sample: maternal
Observed Origin Sample: unknown
Pubmed: 16879198
Pubmed: 1971147
Pubmed: 1682495
Pubmed: 1301202
Pubmed: 1355066
Pubmed: 1671770
Pubmed: 2323773
Pubmed: 8445621
Pubmed: 2884570
Pubmed: 18538294
Pubmed: 12655548
Pubmed: 1671768
ClinVar Allele ID: 15616
ClinVar RefSeq Alternation Syntax: NM_000277.3:c.1222C>T
ClinVar RefSeq Alternation Syntax: NM_001354304.2:c.1222C>T
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2018-08-06
Clinical Significance Review Status: reviewed by expert panel
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000000607
ClinVar Disease: Phenylketonuria
Observed Origin Sample: germline
Observed Origin Sample: biparental

Drugs