ClinVar

NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47803601 (on Assembly GRCh38)
• Chr2: 48030740 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)

HGVS:

• NC_000002.12:g.47803601G>A
• NG_007111.1:g.25455G>A
• NM_000179.3:c.3354G>AMANE SELECT
• NM_001281492.2:c.2964G>A
• NM_001281493.2:c.2448G>A
• NM_001281494.2:c.2448G>A
• NP_000170.1:p.Glu1118=
• NP_000170.1:p.Glu1118=
• NP_001268421.1:p.Glu988=
• NP_001268422.1:p.Glu816=
• NP_001268423.1:p.Glu816=
• LRG_219t1:c.3354G>A
• LRG_219:g.25455G>A
• LRG_219p1:p.Glu1118=
• NC_000002.11:g.48030740G>A
• NM_000179.2:c.3354G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs35642130

NCBI 1000 Genomes Browser:

rs35642130

Molecular consequence:

• NM_000179.3:c.3354G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.2964G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281493.2:c.2448G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281494.2:c.2448G>A - synonymous variant - [Sequence Ontology: SO:0001819]