ClinVar

NM_000179.3(MSH6):c.187T>G (p.Ser63Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47783420 (on Assembly GRCh38)
• Chr2: 48010559 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.187T>G (p.Ser63Ala)

HGVS:

• NC_000002.12:g.47783420T>G
• NG_007111.1:g.5274T>G
• NM_000179.3:c.187T>GMANE SELECT
• NM_001281492.2:c.187T>G
• NM_001281493.2:c.-550T>G
• NP_000170.1:p.Ser63Ala
• NP_000170.1:p.Ser63Ala
• NP_001268421.1:p.Ser63Ala
• LRG_219t1:c.187T>G
• LRG_219:g.5274T>G
• LRG_219p1:p.Ser63Ala
• NC_000002.11:g.48010559T>G
• NM_000179.2:c.187T>G

This HGVS expression did not pass validation

Protein change:

S63A

Links:

dbSNP: rs763702846

NCBI 1000 Genomes Browser:

rs763702846

Molecular consequence:

• NM_001281493.2:c.-550T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000179.3:c.187T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.187T>G - missense variant - [Sequence Ontology: SO:0001583]