ClinVar

NM_000251.3(MSH2):c.1760-7T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47475018 (on Assembly GRCh38)
• Chr2: 47702157 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.1760-7T>C

HGVS:

• NC_000002.12:g.47475018T>C
• NG_007110.2:g.76895T>C
• NM_000251.3:c.1760-7T>CMANE SELECT
• NM_001258281.1:c.1562-7T>C
• LRG_218t1:c.1760-7T>C
• LRG_218:g.76895T>C
• NC_000002.11:g.47702157T>C
• NM_000251.2:c.1760-7T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs972129356

NCBI 1000 Genomes Browser:

rs972129356

Molecular consequence:

• NM_000251.3:c.1760-7T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258281.1:c.1562-7T>C - intron variant - [Sequence Ontology: SO:0001627]