ClinVar

NM_000179.3(MSH6):c.545C>G (p.Ala182Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47795981 (on Assembly GRCh38)
• Chr2: 48023120 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.545C>G (p.Ala182Gly)

HGVS:

• NC_000002.12:g.47795981C>G
• NG_007111.1:g.17835C>G
• NM_000179.3:c.545C>GMANE SELECT
• NM_001281492.2:c.238-2630C>G
• NM_001281493.2:c.-279-2630C>G
• NM_001281494.2:c.-358C>G
• NP_000170.1:p.Ala182Gly
• NP_000170.1:p.Ala182Gly
• LRG_219t1:c.545C>G
• LRG_219:g.17835C>G
• LRG_219p1:p.Ala182Gly
• NC_000002.11:g.48023120C>G
• NM_000179.2:c.545C>G

This HGVS expression did not pass validation

Protein change:

A182G

Links:

dbSNP: rs876659786

NCBI 1000 Genomes Browser:

rs876659786

Molecular consequence:

• NM_001281494.2:c.-358C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001281492.2:c.238-2630C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001281493.2:c.-279-2630C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000179.3:c.545C>G - missense variant - [Sequence Ontology: SO:0001583]