Details for COL4A3:c.3829G>A, p.Gly1277Ser

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228163475227298759
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000091.4
CDNA CHANGE c.3829G>A
PROTEIN CHANGE p.Gly1277Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00290.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00037690.00.00086920.00.00.00.00051270.00099040.0

ESP
AAEA
0.00.0002434
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.447495Disease causing
DBSNP ID rs190598500
4 combinations linked to COL4A3:c.3829G>A, p.Gly1277Ser OLI154; OLI155; OLI156; OLI974
1 disease linked to COL4A3:c.3829G>A, p.Gly1277Ser Alport syndrome
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