Variant #0000036324 (NC_000004.11:g.39201096A>G, WDR19(NM_025132.3):c.407-2A>G)

Individual ID 00016544
Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.39201096A>G
DNA change (hg38) g.39199476A>G
Published as -
ISCN -
DB-ID WDR19_000009
Variant remarks -
Reference PubMed: Coussa 2013
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Heleen Arts
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-08-12 09:49:28 +02:00 (CEST)
Date last edited 2020-06-16 12:50:04 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WDR19 NM_025132.3 +/? 5i c.407-2A>G r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016493 DNA SEQ ? - WDR19 2 Heleen Arts