Details for COL4A3:c.4664C>T, p.Ala1555Val

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228173943227309227
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000091.4
CDNA CHANGE c.4664C>T
PROTEIN CHANGE p.Ala1555Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00150.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.409e-056.457e-050.00.00.0004450.01.766e-050.00.0

ESP
AAEA
0.00024610.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.083963Disease causing
DBSNP ID rs369575989
1 combination linked to COL4A3:c.4664C>T, p.Ala1555Val OLI318
2 diseases linked to COL4A3:c.4664C>T, p.Ala1555Val Benign familial hematuria; Alport syndrome
Found any issues with the data on this page? Report this entry.