Assay Details
Target Gene Details
Entrez Gene ID: | 1762 |
Gene Name: | dystrophia myotonica, WD repeat containing |
Gene Aliases: |
D19S593E, DMR-N9, DMRN9, gene59 |
Location: |
Chr.19:45783006-45792802 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DMWD | NM_004943.1 | 5 | 2622 | NP_004934.1 |
BX283745.1 | 1 | 403 | ||
L19267.1 | 5 | 2213 | AAA35767.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv579870 | Chr.19:45704552 - 45814335 on Build GRCh38 | Loss | BHMG1 DMWD DMPK RSPH6A SIX5 FBXO46 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |