Details for ARHGAP36:c.282G>C, p.Leu94Phe

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
130217167131083193
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ARHGAP36
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.282G>C
PROTEIN CHANGE p.Leu94Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.985122Polymorphism
DBSNP ID NA
1 combination linked to ARHGAP36:c.282G>C, p.Leu94Phe OLI919
1 disease linked to ARHGAP36:c.282G>C, p.Leu94Phe Isolated spina bifida

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