Details for COL4A3:c.2692G>A, p.Gly898Arg

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228148518227283802
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL4A3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000091.5
CDNA CHANGE c.2692G>A
PROTEIN CHANGE p.Gly898Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.488194Disease causing
DBSNP ID NA
1 combination linked to COL4A3:c.2692G>A, p.Gly898Arg OLI1648
1 disease linked to COL4A3:c.2692G>A, p.Gly898Arg Alport syndrome
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