ClinVar

NM_000179.3(MSH6):c.691G>C (p.Val231Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47798674 (on Assembly GRCh38)
• Chr2: 48025813 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.691G>C (p.Val231Leu)

HGVS:

• NC_000002.12:g.47798674G>C
• NG_007111.1:g.20528G>C
• NM_000179.3:c.691G>CMANE SELECT
• NM_001281492.2:c.301G>C
• NM_001281493.2:c.-216G>C
• NM_001281494.2:c.-216G>C
• NP_000170.1:p.Val231Leu
• NP_001268421.1:p.Val101Leu
• LRG_219:g.20528G>C
• NC_000002.11:g.48025813G>C

This HGVS expression did not pass validation

Protein change:

V101L

Links:

dbSNP: rs1572719960

NCBI 1000 Genomes Browser:

rs1572719960

Molecular consequence:

• NM_001281493.2:c.-216G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001281494.2:c.-216G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000179.3:c.691G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.301G>C - missense variant - [Sequence Ontology: SO:0001583]