Details for COL4A4:c.3707-3T>C,

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
227896774227032058
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL4A4
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_000092.5
CDNA CHANGE c.3707-3T>C
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.290712Polymorphism
DBSNP ID NA
1 combination linked to COL4A4:c.3707-3T>C, OLI1648
1 disease linked to COL4A4:c.3707-3T>C, Alport syndrome
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