ClinVar

NM_001941.5(DSC3):c.1889-224C>A

Gene:

DSC3:desmocollin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

• Chr18: 31004590 (on Assembly GRCh38)
• Chr18: 28584556 (on Assembly GRCh37)

Preferred name:

NM_001941.5(DSC3):c.1889-224C>A

HGVS:

• NC_000018.10:g.31004590G>T
• NG_016782.1:g.43226C>A
• NM_001941.5:c.1889-224C>AMANE SELECT
• NM_024423.4:c.1889-224C>A
• NC_000018.9:g.28584556G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1602895

NCBI 1000 Genomes Browser:

rs1602895

Molecular consequence:

• NM_001941.5:c.1889-224C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_024423.4:c.1889-224C>A - intron variant - [Sequence Ontology: SO:0001627]