Details for CYP1B1:c.517G>T, p.Glu173Ter

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
3830201538074872
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE CYP1B1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_000104.3
CDNA CHANGE c.517G>T
PROTEIN CHANGE p.Glu173Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.87e-060.00.00.00.00.01.85e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.640107Disease causing
DBSNP ID rs72481807
1 combination linked to CYP1B1:c.517G>T, p.Glu173Ter OLI768
1 disease linked to CYP1B1:c.517G>T, p.Glu173Ter Congenital glaucoma
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