ClinVar

NM_000179.3(MSH6):c.3711G>C (p.Glu1237Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806268 (on Assembly GRCh38)
• Chr2: 48033407 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3711G>C (p.Glu1237Asp)

HGVS:

• NC_000002.12:g.47806268G>C
• NG_007111.1:g.28122G>C
• NG_008397.1:g.104408C>G
• NM_000179.3:c.3711G>CMANE SELECT
• NM_001281492.2:c.3321G>C
• NM_001281493.2:c.2805G>C
• NM_001281494.2:c.2805G>C
• NP_000170.1:p.Glu1237Asp
• NP_000170.1:p.Glu1237Asp
• NP_001268421.1:p.Glu1107Asp
• NP_001268422.1:p.Glu935Asp
• NP_001268423.1:p.Glu935Asp
• LRG_219t1:c.3711G>C
• LRG_219:g.28122G>C
• LRG_219p1:p.Glu1237Asp
• NC_000002.11:g.48033407G>C
• NM_000179.2:c.3711G>C

This HGVS expression did not pass validation

Protein change:

E1107D

Links:

dbSNP: rs754289472

NCBI 1000 Genomes Browser:

rs754289472

Molecular consequence:

• NM_000179.3:c.3711G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3321G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2805G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2805G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1