ClinVar

NM_000044.6(AR):c.1174C>T (p.Pro392Ser)

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

• ChrX: 67546320 (on Assembly GRCh38)
• ChrX: 66766162 (on Assembly GRCh37)

Preferred name:

NM_000044.6(AR):c.1174C>T (p.Pro392Ser)

HGVS:

• NC_000023.11:g.67546320C>T
• NG_009014.2:g.7289C>T
• NM_000044.6:c.1174C>TMANE SELECT
• NM_001011645.3:c.-610C>T
• NM_001348061.1:c.1174C>T
• NM_001348063.1:c.1174C>T
• NM_001348064.1:c.1174C>T
• NP_000035.2:p.Pro392Ser
• NP_001334990.1:p.Pro392Ser
• NP_001334992.1:p.Pro392Ser
• NP_001334993.1:p.Pro392Ser
• LRG_1406t1:c.1174C>T
• LRG_1406:g.7289C>T
• LRG_1406p1:p.Pro392Ser
• NC_000023.10:g.66766162C>T
• NM_000044.3:c.1174C>T
• NM_000044.4:c.1174C>T
• P10275:p.Pro392Ser
• p.P392S

This HGVS expression did not pass validation

Protein change:

P392S

Links:

UniProtKB: P10275#VAR_009227; dbSNP: rs201934623

NCBI 1000 Genomes Browser:

rs201934623

Molecular consequence:

• NM_001011645.3:c.-610C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000044.6:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348061.1:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348063.1:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348064.1:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]