Details for COL4A3:c.2065G>A, p.Gly689Arg

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228142209227277493
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000091.4
CDNA CHANGE c.2065G>A
PROTEIN CHANGE p.Gly689Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.873693Disease causing
DBSNP ID rs1553758919
1 combination linked to COL4A3:c.2065G>A, p.Gly689Arg OLI380
1 disease linked to COL4A3:c.2065G>A, p.Gly689Arg Alport syndrome
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