Details for CD46:c.97+5G>A,

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
207925659207752314
VARIANT EFFECT splicing
ANNOTATION FLAG manually_corrected
GENE CD46
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_002389.4
CDNA CHANGE c.97+5G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.992e-060.00.00.00.00.08.855e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.265019Disease causing
DBSNP ID rs1013794072
1 combination linked to CD46:c.97+5G>A, OLI514
1 disease linked to CD46:c.97+5G>A, Atypical hemolytic uremic syndrome
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