Details for ROBO3:c.2171C>A, p.Pro724Gln

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
124745104124875208
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ROBO3
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_022370.3
CDNA CHANGE c.2171C>A
PROTEIN CHANGE p.Pro724Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.672278Polymorphism
DBSNP ID rs750905930
1 combination linked to ROBO3:c.2171C>A, p.Pro724Gln OLI900
1 disease linked to ROBO3:c.2171C>A, p.Pro724Gln Normosmic congenital hypogonadotropic hypogonadism
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