ClinVar

NM_000044.6(AR):c.528C>A (p.Ser176Arg)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

• ChrX: 67545674 (on Assembly GRCh38)
• ChrX: 66765516 (on Assembly GRCh37)

Preferred name:

NM_000044.6(AR):c.528C>A (p.Ser176Arg)

HGVS:

• NC_000023.11:g.67545674C>A
• NG_009014.2:g.6643C>A
• NM_000044.6:c.528C>AMANE SELECT
• NM_001011645.3:c.-1256C>A
• NM_001348061.1:c.528C>A
• NM_001348063.1:c.528C>A
• NM_001348064.1:c.528C>A
• NP_000035.2:p.Ser176Arg
• NP_001334990.1:p.Ser176Arg
• NP_001334992.1:p.Ser176Arg
• NP_001334993.1:p.Ser176Arg
• LRG_1406t1:c.528C>A
• LRG_1406:g.6643C>A
• LRG_1406p1:p.Ser176Arg
• NC_000023.10:g.66765516C>A
• NM_000044.3:c.528C>A

This HGVS expression did not pass validation

Protein change:

S176R

Links:

dbSNP: rs777131133

NCBI 1000 Genomes Browser:

rs777131133

Molecular consequence:

• NM_001011645.3:c.-1256C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000044.6:c.528C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348061.1:c.528C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348063.1:c.528C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348064.1:c.528C>A - missense variant - [Sequence Ontology: SO:0001583]