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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DMWD | NM_004943.1 | 3 | 1377 | NP_004934.1 |
BC019266.1 | 1 | 460 | AAH19266.1 | |
BT006798.1 | 1 | 386 | AAP35444.1 | |
CD106470.1 | ||||
L19267.1 | 3 | 965 | 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 | DMWD DMPK BHMG1 RSPH6A SIX5 FBXO46 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |