ClinVar

NM_000044.6(AR):c.173A>T (p.Gln58Leu)

Genes:

LOC109504725:androgen receptor repeat instability region [Gene]
AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

• ChrX: 67545319 (on Assembly GRCh38)
• ChrX: 66765161 (on Assembly GRCh37)

Preferred name:

NM_000044.6(AR):c.173A>T (p.Gln58Leu)

HGVS:

• NC_000023.11:g.67545319A>T
• NG_009014.2:g.6288A>T
• NG_052629.1:g.103A>T
• NM_000044.6:c.173A>TMANE SELECT
• NM_001011645.3:c.-1611A>T
• NM_001348061.1:c.173A>T
• NM_001348063.1:c.173A>T
• NM_001348064.1:c.173A>T
• NP_000035.2:p.Gln58Leu
• NP_001334990.1:p.Gln58Leu
• NP_001334992.1:p.Gln58Leu
• NP_001334993.1:p.Gln58Leu
• LRG_1406t1:c.173A>T
• LRG_1406:g.6288A>T
• LRG_1406p1:p.Gln58Leu
• NC_000023.10:g.66765161A>T
• NM_000044.3:c.173A>T

This HGVS expression did not pass validation

Protein change:

Q58L

Links:

dbSNP: rs200185441

NCBI 1000 Genomes Browser:

rs200185441

Molecular consequence:

• NM_001011645.3:c.-1611A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000044.6:c.173A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348061.1:c.173A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348063.1:c.173A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348064.1:c.173A>T - missense variant - [Sequence Ontology: SO:0001583]