Variant #0000818826 (NC_000004.11:g.39226507G>C, WDR19(NM_025132.3):c.1483G>C)

Individual ID 00388408
Chromosome 4
Allele Unknown
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.39226507G>C
DNA change (hg38) -
Published as NM_025132.3:c.1483G>C
ISCN -
DB-ID WDR19_000015 See all 3 reported entries
Variant remarks Variant published before in Fehrenbach 2014; Lee 2015 as p.Gly495Cys with p.R1178Q or Hom
Reference PubMed: Zhang-2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-11-04 08:27:28 +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     
WDR19 NM_025132.3 +/. 15 c.1483G>C r.(?) p.(Gly495Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389649 DNA SEQ-NG - Exome sequencing WDR19 2 LOVD