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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-12-09 16:29:47 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WBP4 NM_007187.3 +/. - c.562+1278_*1089{0} r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000445478 DNA;RNA RT-PCR;SEQ;SEQ-NG - trio WES, WGS, RNA-seq - 1 Johan den Dunnen


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