Details for COL4A3:c.3691G>A, p.Gly1231Ser

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228162515227297799
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000091.4
CDNA CHANGE c.3691G>A
PROTEIN CHANGE p.Gly1231Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.109e-050.00.00.00.00014810.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.245304Disease causing
DBSNP ID rs761518401
1 combination linked to COL4A3:c.3691G>A, p.Gly1231Ser OLI516
1 disease linked to COL4A3:c.3691G>A, p.Gly1231Ser Alport syndrome
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