Variant #0000669479 (NC_000019.9:g.41220029G>A, NM_024876.3:c.232C>T (ADCK4))

Individual ID 00304662
Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41220029G>A
DNA change (hg38) g.40714124G>A
Published as -
ISCN -
DB-ID ADCK4_000009 See all 2 reported entries
Variant remarks 1 homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs11538384
Origin Germline
Segregation -
Frequency 1/2794 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02489 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-24 11:55:42 +02:00 (CEST)
Date last edited 2025-06-08 20:01:59 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADCK4 NM_024876.3 -/. - c.232C>T r.(?) p.(Arg78Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000305791 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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