ClinVar

NM_000179.3(MSH6):c.-37C>T

Genes:

LOC129933706:ATAC-STARR-seq lymphoblastoid silent region 11467 [Gene]
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47783197 (on Assembly GRCh38)
• Chr2: 48010336 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.-37C>T

HGVS:

• NC_000002.12:g.47783197C>T
• NG_007111.1:g.5051C>T
• NM_000179.3:c.-37C>TMANE SELECT
• NM_001281492.2:c.-37C>T
• NM_001281493.2:c.-773C>T
• LRG_219:g.5051C>T
• NC_000002.11:g.48010336C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs747521149

NCBI 1000 Genomes Browser:

rs747521149

Molecular consequence:

• NM_000179.3:c.-37C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001281492.2:c.-37C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001281493.2:c.-773C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]