Details for CPAMD8:c.4916_4919insT, p.Ala1640GlyfsTer63

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
1700873716897926
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CPAMD8
REFERENCE ALLELE C
ALTERNATE ALLELE CA
TRANSCRIPT NM_015692.2
CDNA CHANGE c.4916_4919insT
PROTEIN CHANGE p.Ala1640GlyfsTer63
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.054102Disease causing
DBSNP ID NA
1 combination linked to CPAMD8:c.4916_4919insT, p.Ala1640GlyfsTer63 OLI1683
1 disease linked to CPAMD8:c.4916_4919insT, p.Ala1640GlyfsTer63 Non-Syndromic genetic keratoconus
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