ClinVar

NM_000179.3(MSH6):c.260+22C>G

Genes:

LOC129933707:ATAC-STARR-seq lymphoblastoid silent region 11468 [Gene]
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47783515 (on Assembly GRCh38)
• Chr2: 48010654 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.260+22C>G

HGVS:

• NC_000002.12:g.47783515C>G
• NG_007111.1:g.5369C>G
• NM_000179.3:c.260+22C>GMANE SELECT
• NM_001281492.2:c.237+45C>G
• NM_001281493.2:c.-477+22C>G
• LRG_219t1:c.260+22C>G
• LRG_219:g.5369C>G
• NC_000002.11:g.48010654C>G
• NM_000179.2:c.260+22C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs55927047

NCBI 1000 Genomes Browser:

rs55927047

Molecular consequence:

• NM_000179.3:c.260+22C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001281492.2:c.237+45C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001281493.2:c.-477+22C>G - intron variant - [Sequence Ontology: SO:0001627]