ClinVar

NM_000179.3(MSH6):c.3532G>C (p.Gly1178Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47805003 (on Assembly GRCh38)
• Chr2: 48032142 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3532G>C (p.Gly1178Arg)

HGVS:

• NC_000002.12:g.47805003G>C
• NG_007111.1:g.26857G>C
• NG_008397.1:g.105673C>G
• NM_000179.3:c.3532G>CMANE SELECT
• NM_001281492.2:c.3142G>C
• NM_001281493.2:c.2626G>C
• NM_001281494.2:c.2626G>C
• NP_000170.1:p.Gly1178Arg
• NP_000170.1:p.Gly1178Arg
• NP_001268421.1:p.Gly1048Arg
• NP_001268422.1:p.Gly876Arg
• NP_001268423.1:p.Gly876Arg
• LRG_219t1:c.3532G>C
• LRG_219:g.26857G>C
• LRG_219p1:p.Gly1178Arg
• NC_000002.11:g.48032142G>C
• NM_000179.2:c.3532G>C

This HGVS expression did not pass validation

Protein change:

G1048R

Links:

dbSNP: rs1558389590

NCBI 1000 Genomes Browser:

rs1558389590

Molecular consequence:

• NM_000179.3:c.3532G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3142G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2626G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2626G>C - missense variant - [Sequence Ontology: SO:0001583]