Details for COL4A5:c.2732G>A, p.Gly911Glu

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
107865087108621857
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A5
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000495.4
CDNA CHANGE c.2732G>A
PROTEIN CHANGE p.Gly911Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.036812Disease causing
DBSNP ID NA
1 combination linked to COL4A5:c.2732G>A, p.Gly911Glu OLI516
1 disease linked to COL4A5:c.2732G>A, p.Gly911Glu Alport syndrome
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