ClinVar

NM_000179.3(MSH6):c.186C>A (p.Arg62=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47783419 (on Assembly GRCh38)
• Chr2: 48010558 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.186C>A (p.Arg62=)

HGVS:

• NC_000002.12:g.47783419C>A
• NG_007111.1:g.5273C>A
• NM_000179.3:c.186C>AMANE SELECT
• NM_001281492.2:c.186C>A
• NM_001281493.2:c.-551C>A
• NP_000170.1:p.Arg62=
• NP_000170.1:p.Arg62=
• NP_001268421.1:p.Arg62=
• LRG_219t1:c.186C>A
• LRG_219:g.5273C>A
• LRG_219p1:p.Arg62=
• NC_000002.11:g.48010558C>A
• NM_000179.2:c.186C>A
• NP_000170.1:p.(=)
• c.186C>A
• p.R62R

This HGVS expression did not pass validation

Links:

dbSNP: rs1042820

NCBI 1000 Genomes Browser:

rs1042820

Molecular consequence:

• NM_001281493.2:c.-551C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000179.3:c.186C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.186C>A - synonymous variant - [Sequence Ontology: SO:0001819]