Details for COL4A4:c.4760C>G, p.Pro1587Arg

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
227872783227008067
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A4
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000092.4
CDNA CHANGE c.4760C>G
PROTEIN CHANGE p.Pro1587Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00.00140.00.0030.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0020310.00039210.00052220.0018890.00.00047020.0033850.0021550.001865

ESP
AAEA
0.00077080.003263
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging1.552749Polymorphism
DBSNP ID rs190148408
2 combinations linked to COL4A4:c.4760C>G, p.Pro1587Arg OLI386; OLI388
1 disease linked to COL4A4:c.4760C>G, p.Pro1587Arg Alport syndrome
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