ClinVar

NM_000251.3(MSH2):c.367-168C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47409926 (on Assembly GRCh38)
• Chr2: 47637065 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.367-168C>T

HGVS:

• NC_000002.12:g.47409926C>T
• NG_007110.2:g.11803C>T
• NM_000251.3:c.367-168C>TMANE SELECT
• NM_001258281.1:c.169-168C>T
• LRG_218:g.11803C>T
• NC_000002.11:g.47637065C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs17217758

NCBI 1000 Genomes Browser:

rs17217758

Molecular consequence:

• NM_000251.3:c.367-168C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258281.1:c.169-168C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1