ClinVar

NM_000179.3(MSH6):c.3536C>A (p.Ala1179Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47805007 (on Assembly GRCh38)
• Chr2: 48032146 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3536C>A (p.Ala1179Asp)

HGVS:

• NC_000002.12:g.47805007C>A
• NG_007111.1:g.26861C>A
• NG_008397.1:g.105669G>T
• NM_000179.3:c.3536C>AMANE SELECT
• NM_001281492.2:c.3146C>A
• NM_001281493.2:c.2630C>A
• NM_001281494.2:c.2630C>A
• NP_000170.1:p.Ala1179Asp
• NP_000170.1:p.Ala1179Asp
• NP_001268421.1:p.Ala1049Asp
• NP_001268422.1:p.Ala877Asp
• NP_001268423.1:p.Ala877Asp
• LRG_219t1:c.3536C>A
• LRG_219:g.26861C>A
• LRG_219p1:p.Ala1179Asp
• NC_000002.11:g.48032146C>A
• NM_000179.2:c.3536C>A

This HGVS expression did not pass validation

Protein change:

A1049D

Links:

dbSNP: rs773583312

NCBI 1000 Genomes Browser:

rs773583312

Molecular consequence:

• NM_000179.3:c.3536C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3146C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2630C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2630C>A - missense variant - [Sequence Ontology: SO:0001583]