Details for COL4A5:c.2858G>T, p.Gly953Val

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
107865996108622766
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A5
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_000495.4
CDNA CHANGE c.2858G>T
PROTEIN CHANGE p.Gly953Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00790.00.00.03140.00.0084

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0036020.00053290.00018250.00.036760.01.227e-050.0031040.006503

ESP
AAEA
0.00052150.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.902127Polymorphism
DBSNP ID NA
1 combination linked to COL4A5:c.2858G>T, p.Gly953Val OLI383
1 disease linked to COL4A5:c.2858G>T, p.Gly953Val Alport syndrome
Found any issues with the data on this page? Report this entry.