Details for IL17RD:c.2101G>A, p.Gly701Ser

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
5713163057097602
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE IL17RD
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_017563.4
CDNA CHANGE c.2101G>A
PROTEIN CHANGE p.Gly701Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
9.595e-050.00.00.00.0013260.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.33181Disease causing
DBSNP ID rs533191655
3 combinations linked to IL17RD:c.2101G>A, p.Gly701Ser OLI1108; OLI858; OLI908
2 diseases linked to IL17RD:c.2101G>A, p.Gly701Ser Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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