Details for PIKFYVE:c.3791+2T>C,

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
209194639208329915
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PIKFYVE
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_015040.4
CDNA CHANGE c.3791+2T>C
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.996495Disease causing
DBSNP ID NA
1 combination linked to PIKFYVE:c.3791+2T>C, OLI1674
1 disease linked to PIKFYVE:c.3791+2T>C, Non-Syndromic genetic keratoconus
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