Details for COL4A4:c.4698del, p.Cys1566TrpfsTer37

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
227872844227008128
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE COL4A4
REFERENCE ALLELE CA
ALTERNATE ALLELE C
TRANSCRIPT NM_000092.4
CDNA CHANGE c.4698del
PROTEIN CHANGE p.Cys1566TrpfsTer37
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.018e-060.00.00.00.00.08.863e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.33024Disease causing
DBSNP ID rs775931001
1 combination linked to COL4A4:c.4698del, p.Cys1566TrpfsTer37 OLI378
1 disease linked to COL4A4:c.4698del, p.Cys1566TrpfsTer37 Alport syndrome
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