Annotation Detail
Information
- Associated Genes
- AR
- Associated Variants
-
AR p.Phe877Leu (p.F877L)
(
ENST00000374690.9,
ENST00000396044.8 )
AR p.Phe877Leu (p.F877L) ( ENST00000374690.9, ENST00000396044.8 ) - Associated Disease
- Androgen resistance syndrome Kennedy disease
- Source Database
- ClinVar
- Description
- NM_000044.6(AR):c.2629T>C (p.Phe877Leu) AND multiple conditions
- ClinVar Allele ID
- 363226
- ClinVar RefSeq Alternation Syntax
- NM_000044.6:c.2629T>C
- ClinVar RefSeq Alternation Syntax
- NM_001011645.3:c.1033T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-10-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003766181
- ClinVar Disease
- Androgen resistance syndrome
- ClinVar Disease
- Kennedy disease
- Observed Origin Sample
- germline
Drugs