ClinVar

NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47804959 (on Assembly GRCh38)
• Chr2: 48032098 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)

Other names:

p.E1163V:GAA>GTA

HGVS:

• NC_000002.12:g.47804959A>T
• NG_007111.1:g.26813A>T
• NG_008397.1:g.105717T>A
• NM_000179.3:c.3488A>TMANE SELECT
• NM_001281492.2:c.3098A>T
• NM_001281493.2:c.2582A>T
• NM_001281494.2:c.2582A>T
• NP_000170.1:p.Glu1163Val
• NP_000170.1:p.Glu1163Val
• NP_001268421.1:p.Glu1033Val
• NP_001268422.1:p.Glu861Val
• NP_001268423.1:p.Glu861Val
• LRG_219t1:c.3488A>T
• LRG_219:g.26813A>T
• LRG_219p1:p.Glu1163Val
• NC_000002.11:g.48032098A>T
• NM_000179.2:c.3488A>T
• P52701:p.Glu1163Val
• p.E1163V

This HGVS expression did not pass validation

Protein change:

E1033V

Links:

UniProtKB: P52701#VAR_043969; dbSNP: rs63750252

NCBI 1000 Genomes Browser:

rs63750252

Molecular consequence:

• NM_000179.3:c.3488A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3098A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2582A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2582A>T - missense variant - [Sequence Ontology: SO:0001583]