Details for COL4A5:c.1417_1418del, p.Val473GlufsTer3

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
107834868108591638
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL4A5
REFERENCE ALLELE AGT
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.1417_1418del
PROTEIN CHANGE p.Val473GlufsTer3
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to COL4A5:c.1417_1418del, p.Val473GlufsTer3 OLI1373
1 disease linked to COL4A5:c.1417_1418del, p.Val473GlufsTer3 Alport syndrome
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