Details for COL4A3:c.1541G>A, p.Gly514Glu

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228134662227269946
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL4A3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000091.5
CDNA CHANGE c.1541G>A
PROTEIN CHANGE p.Gly514Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.320194Disease causing
DBSNP ID NA
1 combination linked to COL4A3:c.1541G>A, p.Gly514Glu OLI1646
1 disease linked to COL4A3:c.1541G>A, p.Gly514Glu Alport syndrome
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