ClinVar

NM_000179.3(MSH6):c.3940C>G (p.Gln1314Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806590 (on Assembly GRCh38)
• Chr2: 48033729 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3940C>G (p.Gln1314Glu)

HGVS:

• NC_000002.12:g.47806590C>G
• NG_007111.1:g.28444C>G
• NG_008397.1:g.104086G>C
• NM_000179.3:c.3940C>GMANE SELECT
• NM_001281492.2:c.3550C>G
• NM_001281493.2:c.3034C>G
• NM_001281494.2:c.3034C>G
• NP_000170.1:p.Gln1314Glu
• NP_000170.1:p.Gln1314Glu
• NP_001268421.1:p.Gln1184Glu
• NP_001268422.1:p.Gln1012Glu
• NP_001268423.1:p.Gln1012Glu
• LRG_219t1:c.3940C>G
• LRG_219:g.28444C>G
• LRG_219p1:p.Gln1314Glu
• NC_000002.11:g.48033729C>G
• NM_000179.2:c.3940C>G

This HGVS expression did not pass validation

Protein change:

Q1012E

Links:

dbSNP: rs1416452389

NCBI 1000 Genomes Browser:

rs1416452389

Molecular consequence:

• NM_000179.3:c.3940C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3550C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.3034C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.3034C>G - missense variant - [Sequence Ontology: SO:0001583]