Details for COL4A3:c.3356G>A, p.Gly1119Asp

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228159224227294508
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000091.4
CDNA CHANGE c.3356G>A
PROTEIN CHANGE p.Gly1119Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.202e-056.457e-052.896e-050.00.00.00.00.03.268e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.086901Disease causing
DBSNP ID rs764480728
1 combination linked to COL4A3:c.3356G>A, p.Gly1119Asp OLI034
1 disease linked to COL4A3:c.3356G>A, p.Gly1119Asp Alport syndrome
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