Annotation Detail
Information
- Associated Genes
- AHCYL1 LOC126805824
- Associated Variants
-
AHCYL1 p.Thr402Ser (p.T402S)
(
ENST00000359172.3,
ENST00000369799.10,
ENST00000393614.8 )
AHCYL1 p.Thr402Ser (p.T402S) ( ENST00000359172.3, ENST00000369799.10, ENST00000393614.8 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_006621.7(AHCYL1):c.1204A>T (p.Thr402Ser) AND not specified
- ClinVar Allele ID
- 3254317
- ClinVar RefSeq Alternation Syntax
- NM_001242673.2:c.1063A>T
- ClinVar RefSeq Alternation Syntax
- NM_001242676.2:c.1063A>T
- ClinVar RefSeq Alternation Syntax
- NM_001242675.2:c.1063A>T
- ClinVar RefSeq Alternation Syntax
- NM_001242674.2:c.1063A>T
- ClinVar RefSeq Alternation Syntax
- NM_006621.7:c.1204A>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-10-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004390324
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs