Details for COL4A3:c.4523A>G, p.Asn1508Ser

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228173675227308959
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A3
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_000091.4
CDNA CHANGE c.4523A>G
PROTEIN CHANGE p.Asn1508Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00022050.00.00014490.00.04.641e-050.00041530.06.536e-05

ESP
AAEA
0.00.000847
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.405132Disease causing
DBSNP ID rs200512461
1 combination linked to COL4A3:c.4523A>G, p.Asn1508Ser OLI157
1 disease linked to COL4A3:c.4523A>G, p.Asn1508Ser Alport syndrome
Found any issues with the data on this page? Report this entry.