Details for COL4A3:c.345del, p.Pro116LeufsTer37

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
228110687227245971
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL4A3
REFERENCE ALLELE CG
ALTERNATE ALLELE -C
TRANSCRIPT N.A.
CDNA CHANGE c.345del
PROTEIN CHANGE p.Pro116LeufsTer37
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to COL4A3:c.345del, p.Pro116LeufsTer37 OLI971
1 disease linked to COL4A3:c.345del, p.Pro116LeufsTer37 Alport syndrome
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