Variant #0000859427 (NC_000004.11:g.39216246T>C, WDR19(NM_025132.3):c.916T>C)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.39216246T>C
DNA change (hg38) -
Published as WDR19(NM_025132.3):c.916T>C (p.L306=), WDR19(NM_025132.4):c.916T>C (p.L306=)
ISCN -
DB-ID WDR19_000028 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 15:51:19 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
WDR19 NM_025132.3 -?/. - c.916T>C r.(?) p.(Leu306=)