Details for COL4A5:c.1772G>A, p.Gly591Glu

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
107840791108597561
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL4A5
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_033380.3
CDNA CHANGE c.1772G>A
PROTEIN CHANGE p.Gly591Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.029186Disease causing
DBSNP ID NA
1 combination linked to COL4A5:c.1772G>A, p.Gly591Glu OLI1647
1 disease linked to COL4A5:c.1772G>A, p.Gly591Glu Alport syndrome
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