Details for COL4A5:c.4042G>A, p.Gly1348Arg

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
107924159108680929
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A5
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000495.4
CDNA CHANGE c.4042G>A
PROTEIN CHANGE p.Gly1348Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.753259Disease causing
DBSNP ID NA
1 combination linked to COL4A5:c.4042G>A, p.Gly1348Arg OLI385
1 disease linked to COL4A5:c.4042G>A, p.Gly1348Arg Alport syndrome
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