Variant #0000444181 (NC_000004.11:g.3465181_3465271del, NC_000004.11(NM_173660.4):c.54+25_55+38del (DOK7))
Individual ID |
00211339 |
Chromosome |
4 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.3465181_3465271del |
DNA change (hg38) |
- |
Published as |
54+25_39del15 |
ISCN |
- |
DB-ID |
DOK7_000059 See all 4 reported entries |
Variant remarks |
Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. |
Reference |
PubMed: Cossins 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2012-07-08 11:53:08 +02:00 (CEST) |
Date last edited |
2019-01-06 10:10:45 +01:00 (CET) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|