Details for COL4A3:c.3419-1G>C,

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228159679227294963
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL4A3
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000091.5
CDNA CHANGE c.3419-1G>C
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.022057Disease causing
DBSNP ID NA
1 combination linked to COL4A3:c.3419-1G>C, OLI1644
1 disease linked to COL4A3:c.3419-1G>C, Alport syndrome
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