ClinVar

NM_000179.3(MSH6):c.693A>T (p.Val231=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47798676 (on Assembly GRCh38)
• Chr2: 48025815 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.693A>T (p.Val231=)

HGVS:

• NC_000002.12:g.47798676A>T
• NG_007111.1:g.20530A>T
• NM_000179.3:c.693A>TMANE SELECT
• NM_001281492.2:c.303A>T
• NM_001281493.2:c.-214A>T
• NM_001281494.2:c.-214A>T
• NP_000170.1:p.Val231=
• NP_001268421.1:p.Val101=
• LRG_219t1:c.693A>T
• LRG_219:g.20530A>T
• NC_000002.11:g.48025815A>T
• NM_000179.2:c.693A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1572719983

NCBI 1000 Genomes Browser:

rs1572719983

Molecular consequence:

• NM_001281493.2:c.-214A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001281494.2:c.-214A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000179.3:c.693A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.303A>T - synonymous variant - [Sequence Ontology: SO:0001819]