ClinVar

NM_000179.3(MSH6):c.2398G>A (p.Val800Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47800381 (on Assembly GRCh38)
• Chr2: 48027520 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.2398G>A (p.Val800Ile)

HGVS:

• NC_000002.12:g.47800381G>A
• NG_007111.1:g.22235G>A
• NM_000179.3:c.2398G>AMANE SELECT
• NM_001281492.2:c.2008G>A
• NM_001281493.2:c.1492G>A
• NM_001281494.2:c.1492G>A
• NP_000170.1:p.Val800Ile
• NP_001268421.1:p.Val670Ile
• NP_001268422.1:p.Val498Ile
• NP_001268423.1:p.Val498Ile
• LRG_219t1:c.2398G>A
• LRG_219:g.22235G>A
• NC_000002.11:g.48027520G>A
• NC_000002.11:g.48027520G>A
• NM_000179.2:c.2398G>A

This HGVS expression did not pass validation

Protein change:

V498I

Links:

dbSNP: rs61748083

NCBI 1000 Genomes Browser:

rs61748083

Molecular consequence:

• NM_000179.3:c.2398G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.2008G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.1492G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.1492G>A - missense variant - [Sequence Ontology: SO:0001583]