Details for CYP1B1:c.1159G>A, p.Glu387Lys

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
3829833838071195
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CYP1B1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000104.3
CDNA CHANGE c.1159G>A
PROTEIN CHANGE p.Glu387Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00029290.00.00049190.00.00.00.00049020.00016390.0

ESP
AAEA
0.00.0004657
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.607416Disease causing
DBSNP ID rs55989760
2 combinations linked to CYP1B1:c.1159G>A, p.Glu387Lys OLI767; OLI768
1 disease linked to CYP1B1:c.1159G>A, p.Glu387Lys Congenital glaucoma
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