Details for ADAMTS8:c.707G>A, p.Gly236Glu

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
130297475130427580
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ADAMTS8
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_007037.6
CDNA CHANGE c.707G>A
PROTEIN CHANGE p.Gly236Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.111373Disease causing
DBSNP ID NA
1 combination linked to ADAMTS8:c.707G>A, p.Gly236Glu OLI1693
1 disease linked to ADAMTS8:c.707G>A, p.Gly236Glu Non-Syndromic genetic keratoconus
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