ClinVar

NM_000044.6(AR):c.1153G>T (p.Ala385Ser)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

• ChrX: 67546299 (on Assembly GRCh38)
• ChrX: 66766141 (on Assembly GRCh37)

Preferred name:

NM_000044.6(AR):c.1153G>T (p.Ala385Ser)

HGVS:

• NC_000023.11:g.67546299G>T
• NG_009014.2:g.7268G>T
• NM_000044.6:c.1153G>TMANE SELECT
• NM_001011645.3:c.-631G>T
• NM_001348061.1:c.1153G>T
• NM_001348063.1:c.1153G>T
• NM_001348064.1:c.1153G>T
• NP_000035.2:p.Ala385Ser
• NP_001334990.1:p.Ala385Ser
• NP_001334992.1:p.Ala385Ser
• NP_001334993.1:p.Ala385Ser
• LRG_1406t1:c.1153G>T
• LRG_1406:g.7268G>T
• LRG_1406p1:p.Ala385Ser
• NC_000023.10:g.66766141G>T
• NM_000044.4:c.1153G>T

This HGVS expression did not pass validation

Protein change:

A385S

Links:

dbSNP: rs200067740

NCBI 1000 Genomes Browser:

rs200067740

Molecular consequence:

• NM_001011645.3:c.-631G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000044.6:c.1153G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348061.1:c.1153G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348063.1:c.1153G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348064.1:c.1153G>T - missense variant - [Sequence Ontology: SO:0001583]