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
not provided
Source Database
ClinVar
Description
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) AND not provided
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
2024-03-01
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000078507
ClinVar Disease
not provided
Observed Origin Sample
germline
Observed Origin Sample
not provided
Observed Origin Sample
unknown
Drugs