Details for COL4A3:c.1558G>C, p.Gly520Arg

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228134679227269963
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A3
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000091.4
CDNA CHANGE c.1558G>C
PROTEIN CHANGE p.Gly520Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.371912Disease causing
DBSNP ID NA
1 combination linked to COL4A3:c.1558G>C, p.Gly520Arg OLI378
1 disease linked to COL4A3:c.1558G>C, p.Gly520Arg Alport syndrome
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