Details for IL17RD:c.1592G>T, p.Arg531Met

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
5713213957098111
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE IL17RD
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_017563.4
CDNA CHANGE c.1592G>T
PROTEIN CHANGE p.Arg531Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8.362e-050.00.00.00.0011420.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.982678Polymorphism
DBSNP ID rs564636157
1 combination linked to IL17RD:c.1592G>T, p.Arg531Met OLI868
1 disease linked to IL17RD:c.1592G>T, p.Arg531Met Kallmann syndrome
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