ClinVar

NM_000179.3(MSH6):c.1952T>C (p.Ile651Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47799935 (on Assembly GRCh38)
• Chr2: 48027074 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.1952T>C (p.Ile651Thr)

HGVS:

• NC_000002.12:g.47799935T>C
• NG_007111.1:g.21789T>C
• NM_000179.3:c.1952T>CMANE SELECT
• NM_001281492.2:c.1562T>C
• NM_001281493.2:c.1046T>C
• NM_001281494.2:c.1046T>C
• NP_000170.1:p.Ile651Thr
• NP_001268421.1:p.Ile521Thr
• NP_001268422.1:p.Ile349Thr
• NP_001268423.1:p.Ile349Thr
• LRG_219t1:c.1952T>C
• LRG_219:g.21789T>C
• NC_000002.11:g.48027074T>C
• NM_000179.2:c.1952T>C

This HGVS expression did not pass validation

Protein change:

I349T

Links:

dbSNP: rs144823143

NCBI 1000 Genomes Browser:

rs144823143

Molecular consequence:

• NM_000179.3:c.1952T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.1562T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.1046T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.1046T>C - missense variant - [Sequence Ontology: SO:0001583]