Details for TRPC4:c.379-2A>T,

CHROMOSOME 13
GENOMIC COORDINATES
hg19hg38
3832059437746457
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TRPC4
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.379-2A>T
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.62917Disease causing
DBSNP ID NA
1 combination linked to TRPC4:c.379-2A>T, OLI1708
1 disease linked to TRPC4:c.379-2A>T, Autism Spectrum Disorder,Lung disease,Global developmental delay

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