ClinVar

NM_000179.3(MSH6):c.2335T>C (p.Cys779Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47800318 (on Assembly GRCh38)
• Chr2: 48027457 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.2335T>C (p.Cys779Arg)

HGVS:

• NC_000002.12:g.47800318T>C
• NG_007111.1:g.22172T>C
• NM_000179.3:c.2335T>CMANE SELECT
• NM_001281492.2:c.1945T>C
• NM_001281493.2:c.1429T>C
• NM_001281494.2:c.1429T>C
• NP_000170.1:p.Cys779Arg
• NP_001268421.1:p.Cys649Arg
• NP_001268422.1:p.Cys477Arg
• NP_001268423.1:p.Cys477Arg
• LRG_219t1:c.2335T>C
• LRG_219:g.22172T>C
• NC_000002.11:g.48027457T>C
• NM_000179.2:c.2335T>C

This HGVS expression did not pass validation

Protein change:

C477R

Links:

dbSNP: rs1320505279

NCBI 1000 Genomes Browser:

rs1320505279

Molecular consequence:

• NM_000179.3:c.2335T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.1945T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.1429T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.1429T>C - missense variant - [Sequence Ontology: SO:0001583]