ClinVar

NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47800040 (on Assembly GRCh38)
• Chr2: 48027179 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)

Other names:

p.G686D:GGT>GAT

HGVS:

• NC_000002.12:g.47800040G>A
• NG_007111.1:g.21894G>A
• NM_000179.3:c.2057G>AMANE SELECT
• NM_001281492.2:c.1667G>A
• NM_001281493.2:c.1151G>A
• NM_001281494.2:c.1151G>A
• NP_000170.1:p.Gly686Asp
• NP_000170.1:p.Gly686Asp
• NP_001268421.1:p.Gly556Asp
• NP_001268422.1:p.Gly384Asp
• NP_001268423.1:p.Gly384Asp
• LRG_219t1:c.2057G>A
• LRG_219:g.21894G>A
• LRG_219p1:p.Gly686Asp
• NC_000002.11:g.48027179G>A
• NM_000179.2:c.2057G>A
• p.G686D

This HGVS expression did not pass validation

Protein change:

G384D

Links:

dbSNP: rs587779227

NCBI 1000 Genomes Browser:

rs587779227

Molecular consequence:

• NM_000179.3:c.2057G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.1667G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.1151G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.1151G>A - missense variant - [Sequence Ontology: SO:0001583]