Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Ile65Thr (p.I65T)
(
ENST00000553106.6,
ENST00000307000.7 )
PAH p.Ile65Thr (p.I65T) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- phenylketonuria
- Source Database
- ClinVar
- Description
- NM_000277.3(PAH):c.194T>C (p.Ile65Thr) AND Phenylketonuria
- ClinVar Allele ID
- 15675
- ClinVar RefSeq Alternation Syntax
- NM_001354304.2:c.194T>C
- ClinVar RefSeq Alternation Syntax
- NM_000277.3:c.194T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-04-21
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000668
- ClinVar Disease
- Phenylketonuria
- Observed Origin Sample
- germline
- Observed Origin Sample
- paternal
- Observed Origin Sample
- unknown
- Pubmed
- 1301201
Drugs