Details for JAG1:p.Arg937Gln

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
1062221410641566
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE JAG1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg937Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00220.00.00720.00.0010.0051

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0019220.0004310.0009830.0050660.00.00018490.0023940.0016290.00343

ESP
AAEA
0.00.002093
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.570051Polymorphism
DBSNP ID rs145895196
2 combinations linked to JAG1:p.Arg937Gln OLI581; OLI588
1 disease linked to JAG1:p.Arg937Gln Congenital hypothyroidism
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