ClinVar

NM_000179.3(MSH6):c.2413A>G (p.Ile805Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47800396 (on Assembly GRCh38)
• Chr2: 48027535 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.2413A>G (p.Ile805Val)

HGVS:

• NC_000002.12:g.47800396A>G
• NG_007111.1:g.22250A>G
• NM_000179.3:c.2413A>GMANE SELECT
• NM_001281492.2:c.2023A>G
• NM_001281493.2:c.1507A>G
• NM_001281494.2:c.1507A>G
• NP_000170.1:p.Ile805Val
• NP_000170.1:p.Ile805Val
• NP_001268421.1:p.Ile675Val
• NP_001268422.1:p.Ile503Val
• NP_001268423.1:p.Ile503Val
• LRG_219t1:c.2413A>G
• LRG_219:g.22250A>G
• LRG_219p1:p.Ile805Val
• NC_000002.11:g.48027535A>G
• NM_000179.2:c.2413A>G

This HGVS expression did not pass validation

Protein change:

I503V

Links:

dbSNP: rs928923556

NCBI 1000 Genomes Browser:

rs928923556

Molecular consequence:

• NM_000179.3:c.2413A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.1507A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.1507A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1