Details for COL4A4:c.4351G>A, p.Gly1451Arg

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
227875200227010484
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL4A4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.4351G>A
PROTEIN CHANGE p.Gly1451Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.12339Disease causing
DBSNP ID NA
1 combination linked to COL4A4:c.4351G>A, p.Gly1451Arg OLI972
1 disease linked to COL4A4:c.4351G>A, p.Gly1451Arg Alport syndrome
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