Details for COL4A4:c.1293_1310del, p.Lys434_Gly439del

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
227958899227094183
VARIANT EFFECT deletion
ANNOTATION FLAG manually_attributed
GENE COL4A4
REFERENCE ALLELE CTTCCCTGGTTTTCCTGGA
ALTERNATE ALLELE C
TRANSCRIPT NM_000092.4
CDNA CHANGE c.1293_1310del
PROTEIN CHANGE p.Lys434_Gly439del
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.024e-060.00.00.00.00.00.00.00016640.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone1.886458Disease causing
DBSNP ID rs1362664502
1 combination linked to COL4A4:c.1293_1310del, p.Lys434_Gly439del OLI379
1 disease linked to COL4A4:c.1293_1310del, p.Lys434_Gly439del Alport syndrome
Found any issues with the data on this page? Report this entry.