ClinVar

NM_000044.6(AR):c.1937C>A (p.Ala646Asp)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

• ChrX: 67711453 (on Assembly GRCh38)
• ChrX: 66931295 (on Assembly GRCh37)

Preferred name:

NM_000044.6(AR):c.1937C>A (p.Ala646Asp)

Other names:

AR, ALA645ASP, SHORT POLYGLYCINE REPEAT, LONG POLYGLUTAMINE REPEAT; A645D

HGVS:

• NC_000023.11:g.67711453C>A
• NG_009014.2:g.172422C>A
• NM_000044.3:c.1937C>A
• NM_000044.6:c.1937C>AMANE SELECT
• NM_001011645.3:c.341C>A
• NP_000035.2:p.Ala646Asp
• NP_001011645.1:p.Ala114Asp
• LRG_1406t1:c.1937C>A
• LRG_1406:g.172422C>A
• LRG_1406p1:p.Ala646Asp
• NC_000023.10:g.66931295C>A
• NM_000044.2:c.1937C>A
• NM_000044.6:c.1937C>A
• P10275:p.Ala646Asp

This HGVS expression did not pass validation

Protein change:

A114D; ALA645ASP

Links:

UniProtKB: P10275#VAR_004686; OMIM: 313700.0060; dbSNP: rs1800053

NCBI 1000 Genomes Browser:

rs1800053

Molecular consequence:

• NM_000044.6:c.1937C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001011645.3:c.341C>A - missense variant - [Sequence Ontology: SO:0001583]