Details for TEK:p.Glu103Asp

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
2715808527158087
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TEK
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Glu103Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.00.00.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00079940.00.00.00.00.08.792e-060.00048880.006435

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging2.913471Disease causing
DBSNP ID rs572527340
1 combination linked to TEK:p.Glu103Asp OLI009
1 disease linked to TEK:p.Glu103Asp Congenital glaucoma
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