Annotation Detail
Information
- Associated Genes
- AR
- Associated Variants
-
AR p.Leu57Gln (p.L57Q)
(
ENST00000396044.8,
ENST00000504326.5,
ENST00000374690.9 )
AR p.Leu57Gln (p.L57Q) ( ENST00000374690.9, ENST00000396044.8, ENST00000504326.5 ) - Associated Disease
- Androgen resistance syndrome Kennedy disease
- Source Database
- ClinVar
- Description
- NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND multiple conditions
- ClinVar Allele ID
- 1038894
- ClinVar RefSeq Alternation Syntax
- NM_001348063.1:c.170T>A
- ClinVar RefSeq Alternation Syntax
- NM_001011645.3:c.-1614T>A
- ClinVar RefSeq Alternation Syntax
- NM_001348064.1:c.170T>A
- ClinVar RefSeq Alternation Syntax
- NM_000044.6:c.170T>A
- ClinVar RefSeq Alternation Syntax
- NM_001348061.1:c.170T>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001438057
- ClinVar Disease
- Androgen resistance syndrome
- ClinVar Disease
- Kennedy disease
- Observed Origin Sample
- germline
Drugs