Annotation Detail
Information
- Associated Genes
- HTT
- Associated Variants
-
HTT p.Val2786Ile (p.V2786I)
(
ENST00000355072.11,
ENST00000680956.1,
ENST00000681528.1 )
HTT p.Val2786Ile (p.V2786I) ( ENST00000355072.11, ENST00000680956.1, ENST00000681528.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001388492.1(HTT):c.8356G>A (p.Val2786Ile) AND not provided
- ClinVar Allele ID
- 1604463
- ClinVar RefSeq Alternation Syntax
- NM_002111.8:c.8362G>A
- ClinVar RefSeq Alternation Syntax
- NM_001388492.1:c.8356G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002092237
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs