Variant #0000952489 (NC_000013.10:g.41648271_41664301del, NM_007187.3:c.562+1278_*1089{0} (WBP4))
Individual ID |
00443981 |
Chromosome |
13 |
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.41648271_41664301del |
DNA change (hg38) |
g.41074135_41090165del |
Published as |
c.562+1278_*7251del |
ISCN |
- |
DB-ID |
WBP4_000006 |
Variant remarks |
very low WBP4 RNA expression |
Reference |
PubMed: Engal 2023, Journal: Engal 2023 |
ClinVar ID |
SCV003922045 |
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 |
2023-12-09 16:29:47 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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