Variant #0000710961 (NC_000004.11:g.5747033_5747035del, NM_153717.2:c.904_906del (EVC))
Individual ID |
00326053 |
Chromosome |
4 |
Allele |
Both (homozygous) |
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.5747033_5747035del |
DNA change (hg38) |
g.5745306_5745308del |
Published as |
- |
ISCN |
- |
DB-ID |
EVC_000076 See all 8 reported entries |
Variant remarks |
- |
Reference |
PubMed: Valencia 2009 |
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 |
2021-01-06 21:50:31 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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