ClinVar

NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47798646 (on Assembly GRCh38)
• Chr2: 48025785 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)

Other names:

p.E221D:GAA>GAC

HGVS:

• NC_000002.12:g.47798646A>C
• NG_007111.1:g.20500A>C
• NM_000179.3:c.663A>CMANE SELECT
• NM_001281492.2:c.273A>C
• NM_001281493.2:c.-244A>C
• NM_001281494.2:c.-244A>C
• NP_000170.1:p.Glu221Asp
• NP_000170.1:p.Glu221Asp
• NP_001268421.1:p.Glu91Asp
• LRG_219t1:c.663A>C
• LRG_219:g.20500A>C
• LRG_219p1:p.Glu221Asp
• NC_000002.11:g.48025785A>C
• NM_000179.2:c.663A>C
• P52701:p.Glu221Asp
• p.E221D

This HGVS expression did not pass validation

Protein change:

E221D

Links:

UniProtKB: P52701#VAR_042274; dbSNP: rs41557217

NCBI 1000 Genomes Browser:

rs41557217

Molecular consequence:

• NM_001281493.2:c.-244A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001281494.2:c.-244A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000179.3:c.663A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.273A>C - missense variant - [Sequence Ontology: SO:0001583]