ClinVar

NM_000179.3(MSH6):c.124C>A (p.Pro42Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47783357 (on Assembly GRCh38)
• Chr2: 48010496 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.124C>A (p.Pro42Thr)

HGVS:

• NC_000002.12:g.47783357C>A
• NG_007111.1:g.5211C>A
• NM_000179.3:c.124C>AMANE SELECT
• NM_001281492.2:c.124C>A
• NM_001281493.2:c.-613C>A
• NP_000170.1:p.Pro42Thr
• NP_001268421.1:p.Pro42Thr
• LRG_219t1:c.124C>A
• LRG_219:g.5211C>A
• NC_000002.11:g.48010496C>A
• NM_000179.2:c.124C>A

This HGVS expression did not pass validation

Protein change:

P42T

Links:

dbSNP: rs34014629

NCBI 1000 Genomes Browser:

rs34014629

Molecular consequence:

• NM_001281493.2:c.-613C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000179.3:c.124C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.124C>A - missense variant - [Sequence Ontology: SO:0001583]