Genomic variant #0000484378

Individual ID 00239236
Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.17954215G>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID JAK3_000057 See all 2 reported entries
Variant remarks not in 188 controls
Reference PubMed: Tomasson 2008
ClinVar ID -
dbSNP ID rs3212723
Origin Germline
Segregation -
Frequency 5/188 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02985 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
JAK3 NM_000215.3 +/. - c.394C>A associated r.(?) p.(Pro132Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000240339 DNA SEQ - - JAK3 1 Johan den Dunnen