ClinVar

NM_000179.3(MSH6):c.34C>A (p.Pro12Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47783267 (on Assembly GRCh38)
• Chr2: 48010406 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.34C>A (p.Pro12Thr)

HGVS:

• NC_000002.12:g.47783267C>A
• NG_007111.1:g.5121C>A
• NM_000179.3:c.34C>AMANE SELECT
• NM_001281492.2:c.34C>A
• NM_001281493.2:c.-703C>A
• NP_000170.1:p.Pro12Thr
• NP_000170.1:p.Pro12Thr
• NP_001268421.1:p.Pro12Thr
• LRG_219t1:c.34C>A
• LRG_219:g.5121C>A
• LRG_219p1:p.Pro12Thr
• NC_000002.11:g.48010406C>A
• NM_000179.2:c.34C>A
• p.P12T

This HGVS expression did not pass validation

Protein change:

P12T

Links:

dbSNP: rs587782084

NCBI 1000 Genomes Browser:

rs587782084

Molecular consequence:

• NM_001281493.2:c.-703C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000179.3:c.34C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.34C>A - missense variant - [Sequence Ontology: SO:0001583]