ClinVar

NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47800909 (on Assembly GRCh38)
• Chr2: 48028048 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.2926C>T (p.Arg976Cys)

Other names:

p.R976C:CGT>TGT

HGVS:

• NC_000002.12:g.47800909C>T
• NG_007111.1:g.22763C>T
• NM_000179.3:c.2926C>TMANE SELECT
• NM_001281492.2:c.2536C>T
• NM_001281493.2:c.2020C>T
• NM_001281494.2:c.2020C>T
• NP_000170.1:p.Arg976Cys
• NP_000170.1:p.Arg976Cys
• NP_001268421.1:p.Arg846Cys
• NP_001268422.1:p.Arg674Cys
• NP_001268423.1:p.Arg674Cys
• LRG_219t1:c.2926C>T
• LRG_219:g.22763C>T
• LRG_219p1:p.Arg976Cys
• NC_000002.11:g.48028048C>T
• NM_000179.2:c.2926C>T
• p.R976C

This HGVS expression did not pass validation

Protein change:

R674C

Links:

dbSNP: rs587782386

NCBI 1000 Genomes Browser:

rs587782386

Molecular consequence:

• NM_000179.3:c.2926C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.2536C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2020C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2020C>T - missense variant - [Sequence Ontology: SO:0001583]