ClinVar

NM_024422.6(DSC2):c.*784G>T

Gene:

DSC2:desmocollin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

• Chr18: 31067231 (on Assembly GRCh38)
• Chr18: 28647197 (on Assembly GRCh37)

Preferred name:

NM_024422.6(DSC2):c.*784G>T

HGVS:

• NC_000018.10:g.31067231C>A
• NG_008208.2:g.40195G>T
• NM_004949.5:c.*992G>T
• NM_024422.6:c.*784G>TMANE SELECT
• LRG_400:g.40195G>T
• NC_000018.9:g.28647197C>A
• NM_024422.3:c.*784G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1613246

NCBI 1000 Genomes Browser:

rs1613246

Molecular consequence:

• NM_004949.5:c.*992G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_024422.6:c.*784G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]