Annotation Detail
Information
- Associated Genes
- FAAH
- Associated Variants
-
FAAH p.Pro129Thr (p.P129T)
(
ENST00000243167.9 )
FAAH p.Pro129Thr (p.P129T) ( ENST00000243167.9 ) - Associated Disease
- FAAH-related disorder
- Source Database
- ClinVar
- Description
- NM_001441.3(FAAH):c.385C>A (p.Pro129Thr) AND FAAH-related disorder
- ClinVar Allele ID
- 21763
- ClinVar RefSeq Alternation Syntax
- NM_001441.3:c.385C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974803
- ClinVar Disease
- FAAH-related disorder
- Observed Origin Sample
- germline
Drugs