Details for COL4A4:c.2075G>T, p.Gly692Val

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
227924941227060225
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A4
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_000092.4
CDNA CHANGE c.2075G>T
PROTEIN CHANGE p.Gly692Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.62566Disease causing
DBSNP ID NA
1 combination linked to COL4A4:c.2075G>T, p.Gly692Val OLI384
1 disease linked to COL4A4:c.2075G>T, p.Gly692Val Alport syndrome
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