Details for COL4A5:c.1374delinsTT, p.Pro459SerfsTer6

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
107834825108591595
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL4A5
REFERENCE ALLELE C
ALTERNATE ALLELE TT
TRANSCRIPT N.A.
CDNA CHANGE c.1374delinsTT
PROTEIN CHANGE p.Pro459SerfsTer6
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.663921None
DBSNP ID NA
1 combination linked to COL4A5:c.1374delinsTT, p.Pro459SerfsTer6 OLI1374
1 disease linked to COL4A5:c.1374delinsTT, p.Pro459SerfsTer6 Alport syndrome
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