ClinVar

NM_000251.3(MSH2):c.434T>C (p.Ile145Thr)

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47410161 (on Assembly GRCh38)
• Chr2: 47637300 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.434T>C (p.Ile145Thr)

HGVS:

• NC_000002.12:g.47410161T>C
• NG_007110.2:g.12038T>C
• NM_000251.3:c.434T>CMANE SELECT
• NM_001258281.1:c.236T>C
• NP_000242.1:p.Ile145Thr
• NP_000242.1:p.Ile145Thr
• NP_001245210.1:p.Ile79Thr
• LRG_218t1:c.434T>C
• LRG_218:g.12038T>C
• LRG_218p1:p.Ile145Thr
• NC_000002.11:g.47637300T>C
• NM_000251.1:c.434T>C
• NM_000251.2:c.434T>C

This HGVS expression did not pass validation

Protein change:

I145T

Links:

dbSNP: rs774132884

NCBI 1000 Genomes Browser:

rs774132884

Molecular consequence:

• NM_000251.3:c.434T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258281.1:c.236T>C - missense variant - [Sequence Ontology: SO:0001583]