Details for ROBO3:c.2763G>C, p.Glu921Asp

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
124746340124876444
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ROBO3
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_022370.3
CDNA CHANGE c.2763G>C
PROTEIN CHANGE p.Glu921Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00290.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0012070.00.00066890.00.0067290.00.0018170.00.0

ESP
AAEA
0.00035790.0003154
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.091118Polymorphism
DBSNP ID rs374437135
2 combinations linked to ROBO3:c.2763G>C, p.Glu921Asp OLI888; OLI892
2 diseases linked to ROBO3:c.2763G>C, p.Glu921Asp Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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