ClinVar

NM_000179.3(MSH6):c.3710A>C (p.Glu1237Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806267 (on Assembly GRCh38)
• Chr2: 48033406 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3710A>C (p.Glu1237Ala)

HGVS:

• NC_000002.12:g.47806267A>C
• NG_007111.1:g.28121A>C
• NG_008397.1:g.104409T>G
• NM_000179.3:c.3710A>CMANE SELECT
• NM_001281492.2:c.3320A>C
• NM_001281493.2:c.2804A>C
• NM_001281494.2:c.2804A>C
• NP_000170.1:p.Glu1237Ala
• NP_001268421.1:p.Glu1107Ala
• NP_001268422.1:p.Glu935Ala
• NP_001268423.1:p.Glu935Ala
• LRG_219:g.28121A>C
• NC_000002.11:g.48033406A>C

This HGVS expression did not pass validation

Protein change:

E1107A

Links:

dbSNP: rs2104540805

NCBI 1000 Genomes Browser:

rs2104540805

Molecular consequence:

• NM_000179.3:c.3710A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3320A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2804A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2804A>C - missense variant - [Sequence Ontology: SO:0001583]