ClinVar

NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806236 (on Assembly GRCh38)
• Chr2: 48033375 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)

HGVS:

• NC_000002.12:g.47806236A>T
• NG_007111.1:g.28090A>T
• NG_008397.1:g.104440T>A
• NM_000179.3:c.3679A>TMANE SELECT
• NM_001281492.2:c.3289A>T
• NM_001281493.2:c.2773A>T
• NM_001281494.2:c.2773A>T
• NP_000170.1:p.Ile1227Leu
• NP_000170.1:p.Ile1227Leu
• NP_001268421.1:p.Ile1097Leu
• NP_001268422.1:p.Ile925Leu
• NP_001268423.1:p.Ile925Leu
• LRG_219t1:c.3679A>T
• LRG_219:g.28090A>T
• LRG_219p1:p.Ile1227Leu
• NC_000002.11:g.48033375A>T
• NM_000179.2:c.3679A>T

This HGVS expression did not pass validation

Protein change:

I1097L

Links:

dbSNP: rs587779282

NCBI 1000 Genomes Browser:

rs587779282

Molecular consequence:

• NM_000179.3:c.3679A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3289A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2773A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2773A>T - missense variant - [Sequence Ontology: SO:0001583]