Variant #0000873924 (NC_000020.10:g.43255220T>C, NM_000022.2:c.239A>G (ADA))

Individual ID 00414706
Chromosome 20
Allele Unknown
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.43255220T>C
DNA change (hg38) g.44626579T>C
Published as ADA 20:42688634 (hg18) het CM860001 14.4%
ISCN -
DB-ID ADA_000030 See all 14 reported entries
Variant remarks non-causative, heterozygous
Reference PubMed: Bell 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.05762 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-02 11:28:48 +02:00 (CEST)
Date last edited 2024-04-28 04:55:48 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADA NM_000022.2 -/. - c.239A>G r.(?) p.(Lys80Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415987 DNA;RNA SEQ-NG blood - HEXA 12 LOVD


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