Details for COL4A4:c.2164G>A, p.Gly722Ser

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
227924852227060136
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000092.4
CDNA CHANGE c.2164G>A
PROTEIN CHANGE p.Gly722Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging6.061754Disease causing
DBSNP ID NA
1 combination linked to COL4A4:c.2164G>A, p.Gly722Ser OLI385
1 disease linked to COL4A4:c.2164G>A, p.Gly722Ser Alport syndrome
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