Annotation Detail
Information
- Associated Genes
- AR
- Associated Variants
-
AR p.Glu654Lys (p.E654K)
(
ENST00000374690.9,
ENST00000396044.8 )
AR p.Glu654Lys (p.E654K) ( ENST00000374690.9, ENST00000396044.8 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000044.6(AR):c.1960G>A (p.Glu654Lys) AND not specified
- ClinVar Allele ID
- 1678488
- ClinVar RefSeq Alternation Syntax
- NM_000044.6:c.1960G>A
- ClinVar RefSeq Alternation Syntax
- NM_001011645.3:c.364G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002246994
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs