Details for INPPL1:c.2659+4G>C,

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
7194649972235455
VARIANT EFFECT None
ANNOTATION FLAG None
GENE INPPL1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_001567.4
CDNA CHANGE c.2659+4G>C
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.249835Disease causing
DBSNP ID NA
1 combination linked to INPPL1:c.2659+4G>C, OLI1681
1 disease linked to INPPL1:c.2659+4G>C, Non-Syndromic genetic keratoconus
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