ClinVar

NM_000044.6(AR):c.1947C>T (p.Thr649=)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

• ChrX: 67711463 (on Assembly GRCh38)
• ChrX: 66931305 (on Assembly GRCh37)

Preferred name:

NM_000044.6(AR):c.1947C>T (p.Thr649=)

HGVS:

• NC_000023.11:g.67711463C>T
• NG_009014.2:g.172432C>T
• NM_000044.6:c.1947C>TMANE SELECT
• NM_001011645.3:c.351C>T
• NM_001424175.1:c.1950C>T
• NP_000035.2:p.Thr649=
• NP_001011645.1:p.Thr117=
• NP_001411104.1:p.Thr650=
• LRG_1406t1:c.1947C>T
• LRG_1406:g.172432C>T
• LRG_1406p1:p.Thr649=
• NC_000023.10:g.66931305C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000044.6:c.1947C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001011645.3:c.351C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001424175.1:c.1950C>T - synonymous variant - [Sequence Ontology: SO:0001819]