Details for COL17A1:c.1141+1G>A,

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
105819876104060118
VARIANT EFFECT None
ANNOTATION FLAG None
GENE COL17A1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000494.4
CDNA CHANGE c.1141+1G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.007756Disease causing
DBSNP ID NA
1 combination linked to COL17A1:c.1141+1G>A, OLI1733
1 disease linked to COL17A1:c.1141+1G>A, Amelogenesis imperfecta
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