Details for COL4A3:c.3302G>A, p.Gly1101=

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228157998227293282
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL4A3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.3302G>A
PROTEIN CHANGE p.Gly1101=
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.447232Disease causing
DBSNP ID NA
1 combination linked to COL4A3:c.3302G>A, p.Gly1101= OLI975
1 disease linked to COL4A3:c.3302G>A, p.Gly1101= Alport syndrome
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