Details for SPRY4:c.88C>T, p.Arg30Trp

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
141694586142315021
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE SPRY4
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001127496.3
CDNA CHANGE c.88C>T
PROTEIN CHANGE p.Arg30Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00240.00.00.01190.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0005640.00012980.00011580.00080020.0056184.638e-050.00015220.00049376.535e-05

ESP
AAEA
0.00.0003533
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.668283Polymorphism
DBSNP ID rs200531302
1 combination linked to SPRY4:c.88C>T, p.Arg30Trp OLI835
1 disease linked to SPRY4:c.88C>T, p.Arg30Trp Kallmann syndrome
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