ClinVar

NM_000044.6(AR):c.1852C>T (p.Arg618Trp)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

• ChrX: 67686093 (on Assembly GRCh38)
• ChrX: 66905935 (on Assembly GRCh37)

Preferred name:

NM_000044.6(AR):c.1852C>T (p.Arg618Trp)

HGVS:

• NC_000023.11:g.67686093C>T
• NG_009014.2:g.147062C>T
• NM_000044.6:c.1852C>TMANE SELECT
• NM_001011645.3:c.256C>T
• NM_001348061.1:c.1852C>T
• NM_001348063.1:c.1852C>T
• NM_001348064.1:c.*50C>T
• NM_001424175.1:c.1855C>T
• NP_000035.2:p.Arg618Trp
• NP_001011645.1:p.Arg86Trp
• NP_001334990.1:p.Arg618Trp
• NP_001334992.1:p.Arg618Trp
• NP_001411104.1:p.Arg619Trp
• LRG_1406t1:c.1852C>T
• LRG_1406:g.147062C>T
• LRG_1406p1:p.Arg618Trp
• NC_000023.10:g.66905935C>T

This HGVS expression did not pass validation

Protein change:

R618W

Molecular consequence:

• NM_001348064.1:c.*50C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000044.6:c.1852C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001011645.3:c.256C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348061.1:c.1852C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348063.1:c.1852C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001424175.1:c.1855C>T - missense variant - [Sequence Ontology: SO:0001583]