Details for ROBO3:c.3742C>T, p.Arg1248Ter

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
124749417124879521
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE ROBO3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_022370.3
CDNA CHANGE c.3742C>T
PROTEIN CHANGE p.Arg1248Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.460028Disease causing
DBSNP ID rs1450805613
1 combination linked to ROBO3:c.3742C>T, p.Arg1248Ter OLI862
1 disease linked to ROBO3:c.3742C>T, p.Arg1248Ter Kallmann syndrome
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