ClinVar

NM_000179.3(MSH6):c.3936T>C (p.Val1312=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806586 (on Assembly GRCh38)
• Chr2: 48033725 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3936T>C (p.Val1312=)

HGVS:

• NC_000002.12:g.47806586T>C
• NG_007111.1:g.28440T>C
• NG_008397.1:g.104090A>G
• NM_000179.3:c.3936T>CMANE SELECT
• NM_001281492.2:c.3546T>C
• NM_001281493.2:c.3030T>C
• NM_001281494.2:c.3030T>C
• NP_000170.1:p.Val1312=
• NP_000170.1:p.Val1312=
• NP_001268421.1:p.Val1182=
• NP_001268422.1:p.Val1010=
• NP_001268423.1:p.Val1010=
• LRG_219t1:c.3936T>C
• LRG_219:g.28440T>C
• LRG_219p1:p.Val1312=
• NC_000002.11:g.48033725T>C
• NM_000179.2:c.3936T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs61753796

NCBI 1000 Genomes Browser:

rs61753796

Molecular consequence:

• NM_000179.3:c.3936T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.3546T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281493.2:c.3030T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281494.2:c.3030T>C - synonymous variant - [Sequence Ontology: SO:0001819]