Details for COL4A5:c.1931G>A, p.Gly644Asp

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
107842083108598853
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A5
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000495.4
CDNA CHANGE c.1931G>A
PROTEIN CHANGE p.Gly644Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.119746Disease causing
DBSNP ID NA
1 combination linked to COL4A5:c.1931G>A, p.Gly644Asp OLI384
1 disease linked to COL4A5:c.1931G>A, p.Gly644Asp Alport syndrome
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