ClinVar

NM_000044.6(AR):c.171GCA[22] (p.Gln80del)

Genes:

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

Variant type:

Microsatellite

Cytogenetic location:

Xq12

Genomic location:

• ChrX: 67545317 - 67545319 (on Assembly GRCh38)
• ChrX: 66765159 - 66765161 (on Assembly GRCh37)

Preferred name:

NM_000044.6(AR):c.171GCA[22] (p.Gln80del)

HGVS:

• NC_000023.11:g.67545317GCA[22]
• NG_009014.2:g.6286GCA[22]
• NG_052629.1:g.101GCA[22]
• NM_000044.6:c.171GCA[22]MANE SELECT
• NM_001011645.3:c.-1613GCA[22]
• NM_001348061.1:c.171GCA[22]
• NM_001348063.1:c.171GCA[22]
• NM_001348064.1:c.171GCA[22]
• NP_000035.2:p.Gln80del
• NP_001334990.1:p.Gln80del
• NP_001334992.1:p.Gln80del
• NP_001334993.1:p.Gln80del
• LRG_1406t1:c.171GCA[22]
• LRG_1406:g.6286GCA[22]
• LRG_1406p1:p.Gln80del
• NC_000023.10:g.66765159GCA[22]
• NM_000044.2:c.237_239delGCA
• NM_000044.3:c.237_239delGCA
• NM_000044.6:c.237_239delMANE SELECT

This HGVS expression did not pass validation

Protein change:

Q80del

Links:

dbSNP: rs3032358

NCBI 1000 Genomes Browser:

rs3032358

Molecular consequence:

• NM_001011645.3:c.-1613GCA[22] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000044.6:c.171GCA[22] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_001348061.1:c.171GCA[22] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_001348063.1:c.171GCA[22] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_001348064.1:c.171GCA[22] - inframe_deletion - [Sequence Ontology: SO:0001822]