Genomic variant #0000000879

Individual ID 00000011
Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.43255220T>C
DNA change (hg38) g.44626579T>C
Published as -
ISCN -
DB-ID ADA_000030 See all 13 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.06505 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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     
0000000011 DNA SEQ-NG - - ACADM, ADA, ATP7B, ATR, CFTR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, SERPINA1, SMPD1 11 LOVD-team, but with Curator vacancy