Details for COL4A4:c.1553G>A, p.Gly518Glu

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
227953439227088723
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000092.4
CDNA CHANGE c.1553G>A
PROTEIN CHANGE p.Gly518Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.144823Disease causing
DBSNP ID rs564334744
1 combination linked to COL4A4:c.1553G>A, p.Gly518Glu OLI376
1 disease linked to COL4A4:c.1553G>A, p.Gly518Glu Alport syndrome
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