ClinVar

NM_006015.6(ARID1A):c.275G>A (p.Gly92Asp)

Gene:

ARID1A:AT-rich interaction domain 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

• Chr1: 26696678 (on Assembly GRCh38)
• Chr1: 27023169 (on Assembly GRCh37)

Preferred name:

NM_006015.6(ARID1A):c.275G>A (p.Gly92Asp)

HGVS:

• NC_000001.11:g.26696678G>A
• NG_029965.1:g.5648G>A
• NG_090122.2:g.1931G>A
• NG_090123.1:g.994G>A
• NM_006015.6:c.275G>AMANE SELECT
• NM_139135.4:c.275G>A
• NP_006006.3:p.Gly92Asp
• NP_006006.3:p.Gly92Asp
• NP_624361.1:p.Gly92Asp
• LRG_875t1:c.275G>A
• LRG_875:g.5648G>A
• LRG_875p1:p.Gly92Asp
• NC_000001.10:g.27023169G>A
• NM_006015.4:c.275G>A

This HGVS expression did not pass validation

Protein change:

G92D

Molecular consequence:

• NM_006015.6:c.275G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_139135.4:c.275G>A - missense variant - [Sequence Ontology: SO:0001583]