Variant #0000000894 (NC_000020.10:g.43255242T>C, ADA(NM_000022.2):c.219-2A>G)

Individual ID 00000035
Chromosome 20
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.43255242T>C
DNA change (hg38) g.44626601T>C
Published as IVS3-2A>G
ISCN -
DB-ID ADA_000032
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ADA NM_000022.2 +/. 3i c.219-2A>G r.219_362del p.Gly74_Glu121del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000035 DNA SEQ-NG - - ADA, ATP7B, BLM, CFTR, DPYD, ETFB, GLB1, HBB, IGHMBP2, MYO5A, PKHD1, SERPINA1, SMPD1 17 Global Variome, with Curator vacancy