ClinVar

NM_000179.3(MSH6):c.2064C>A (p.Val688=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47800047 (on Assembly GRCh38)
• Chr2: 48027186 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.2064C>A (p.Val688=)

HGVS:

• NC_000002.12:g.47800047C>A
• NG_007111.1:g.21901C>A
• NM_000179.3:c.2064C>AMANE SELECT
• NM_001281492.2:c.1674C>A
• NM_001281493.2:c.1158C>A
• NM_001281494.2:c.1158C>A
• NP_000170.1:p.Val688=
• NP_001268421.1:p.Val558=
• NP_001268422.1:p.Val386=
• NP_001268423.1:p.Val386=
• LRG_219t1:c.2064C>A
• LRG_219:g.21901C>A
• NC_000002.11:g.48027186C>A
• NM_000179.2:c.2064C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1057524297

NCBI 1000 Genomes Browser:

rs1057524297

Molecular consequence:

• NM_000179.3:c.2064C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.1674C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281493.2:c.1158C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281494.2:c.1158C>A - synonymous variant - [Sequence Ontology: SO:0001819]