Details for COL4A3:c.898G>A, p.Gly300Arg

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228120751227256035
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000091.4
CDNA CHANGE c.898G>A
PROTEIN CHANGE p.Gly300Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.005e-056.457e-050.00.00.00.02.65e-050.03.268e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.925162Disease causing
DBSNP ID rs772708743
1 combination linked to COL4A3:c.898G>A, p.Gly300Arg OLI377
1 disease linked to COL4A3:c.898G>A, p.Gly300Arg Alport syndrome
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