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rs55778349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs55778349(C;C)
Make rs55778349(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position17843141
GeneJAK3
is asnp
is mentioned by
dbSNPrs55778349
dbSNP (old)rs55778349
ClinGenrs55778349
ebirs55778349
HLIrs55778349
Exacrs55778349
Varsomers55778349
Maprs55778349
PheGenIrs55778349
Biobankrs55778349
1000 genomesrs55778349
hgdprs55778349
ensemblrs55778349
gopubmedrs55778349
geneviewrs55778349
scholarrs55778349
googlers55778349
pharmgkbrs55778349
gwascentralrs55778349
openSNPrs55778349
23andMers55778349
23andMe allrs55778349
SNP Nexus

SNPshotrs55778349
SNPdbers55778349
MSV3drs55778349
GWAS Ctlgrs55778349
GMAF0.003214
Max Magnitude0
ClinVar
Risk rs55778349(C;C)
Alt rs55778349(C;C)
Reference Rs55778349(G;G)
Significance Other
Disease Severe combined immunodeficiency disease not specified not provided
Variation info
Gene JAK3
CLNDBN Severe combined immunodeficiency disease not specified not provided
Reversed 0
HGVS NC_000019.9:g.17953950G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000030094.1, RCV000121271.2, RCV000224911.1,



[PMID 17433] [Inhibition of 4-aminobutyrate transaminase by ethanolamine-O-sulfate].


[PMID 10900158] Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency.


[PMID 10982185] Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.


[PMID 11668610] Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.


[PMID 17456055] Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.


[PMID 20132407OA-icon.png] Perspectives for the use of structural information and chemical genetics to develop inhibitors of Janus kinases.


GET Evidence
JAK3-P151R
aa_change Pro151Arg
aa_change_short P151R
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency
summary Reported in ClinVar to cause Severe Combined Immunodeficiency Disease (aka "bubble boy disease"). However the variant is carried by nearly 1 in 100 individuals with European ancestry, and 1 in 12,000 are predicted to be homozygous. The disease is extremely rare -- highest estimate is 1 in 50,000 -- the high frequency of this variant means it cannot be a cause of this disease.