Details for COL4A5:c.2683delA, p.Lys895LysfsTer6

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
107865037108621807
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL4A5
REFERENCE ALLELE CA
ALTERNATE ALLELE C
TRANSCRIPT NM_033380.3
CDNA CHANGE c.2683delA
PROTEIN CHANGE p.Lys895LysfsTer6
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.172982None
DBSNP ID NA
1 combination linked to COL4A5:c.2683delA, p.Lys895LysfsTer6 OLI1644
1 disease linked to COL4A5:c.2683delA, p.Lys895LysfsTer6 Alport syndrome
Found any issues with the data on this page? Report this entry.