ClinVar

NM_000179.3(MSH6):c.818G>T (p.Gly273Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47798801 (on Assembly GRCh38)
• Chr2: 48025940 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.818G>T (p.Gly273Val)

HGVS:

• NC_000002.12:g.47798801G>T
• NG_007111.1:g.20655G>T
• NM_000179.3:c.818G>TMANE SELECT
• NM_001281492.2:c.428G>T
• NM_001281493.2:c.-89G>T
• NM_001281494.2:c.-89G>T
• NP_000170.1:p.Gly273Val
• NP_000170.1:p.Gly273Val
• NP_001268421.1:p.Gly143Val
• LRG_219t1:c.818G>T
• LRG_219:g.20655G>T
• LRG_219p1:p.Gly273Val
• NC_000002.11:g.48025940G>T
• NM_000179.2:c.818G>T

This HGVS expression did not pass validation

Protein change:

G143V

Links:

dbSNP: rs769610487

NCBI 1000 Genomes Browser:

rs769610487

Molecular consequence:

• NM_001281493.2:c.-89G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001281494.2:c.-89G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000179.3:c.818G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.428G>T - missense variant - [Sequence Ontology: SO:0001583]