Details for IL17RD:c.1696C>T, p.Pro566Ser

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
5713203557098007
VARIANT EFFECT None
ANNOTATION FLAG None
GENE IL17RD
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_017563.5
CDNA CHANGE c.1696C>T
PROTEIN CHANGE p.Pro566Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00980.00150.02310.00.02980.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.014390.0046160.010850.019860.00.014560.02140.011590.0049

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.147548Polymorphism
DBSNP ID NA
1 combination linked to IL17RD:c.1696C>T, p.Pro566Ser OLI1325
1 disease linked to IL17RD:c.1696C>T, p.Pro566Ser Non-acquired combined pituitary hormone deficiency

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