Details for COL4A3:c.4994G>A, p.Cys1665Tyr

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228176567227311851
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE COL4A3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000091.4
CDNA CHANGE c.4994G>A
PROTEIN CHANGE p.Cys1665Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.807e-050.02.899e-050.00.00.05.301e-050.00.0

ESP
AAEA
0.00.0001223
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.30619Disease causing
DBSNP ID rs376550779
1 combination linked to COL4A3:c.4994G>A, p.Cys1665Tyr OLI381
1 disease linked to COL4A3:c.4994G>A, p.Cys1665Tyr Alport syndrome
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