ClinVar

NM_000179.3(MSH6):c.854G>T (p.Ser285Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47798837 (on Assembly GRCh38)
• Chr2: 48025976 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.854G>T (p.Ser285Ile)

Other names:

p.S285I:AGT>ATT

HGVS:

• NC_000002.12:g.47798837G>T
• NG_007111.1:g.20691G>T
• NM_000179.3:c.854G>TMANE SELECT
• NM_001281492.2:c.464G>T
• NM_001281493.2:c.-53G>T
• NM_001281494.2:c.-53G>T
• NP_000170.1:p.Ser285Ile
• NP_000170.1:p.Ser285Ile
• NP_001268421.1:p.Ser155Ile
• LRG_219t1:c.854G>T
• LRG_219:g.20691G>T
• LRG_219p1:p.Ser285Ile
• NC_000002.11:g.48025976G>T
• NM_000179.2:c.854G>T
• P52701:p.Ser285Ile
• p.S285I

This HGVS expression did not pass validation

Protein change:

S155I

Links:

UniProtKB: P52701#VAR_012957; dbSNP: rs63750878

NCBI 1000 Genomes Browser:

rs63750878

Molecular consequence:

• NM_001281493.2:c.-53G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001281494.2:c.-53G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000179.3:c.854G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.464G>T - missense variant - [Sequence Ontology: SO:0001583]