Details for COL4A4:c.5045G>A, p.Arg1682Gln

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
227872069227007353
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000092.4
CDNA CHANGE c.5045G>A
PROTEIN CHANGE p.Arg1682Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00012426.457e-050.00.0020850.00.07.944e-050.00.0

ESP
AAEA
0.00.0002402
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.270647Disease causing
DBSNP ID rs368404711
2 combinations linked to COL4A4:c.5045G>A, p.Arg1682Gln OLI157; OLI973
1 disease linked to COL4A4:c.5045G>A, p.Arg1682Gln Alport syndrome
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