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
not provided
Source Database
ClinVar
Description
NM_000044.6(AR):c.170T>A (p.Leu57Gln) AND not provided
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
2019-06-21
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001355053
ClinVar Disease
not provided
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs