Details for CYP1B1:c.685G>A, p.Glu229Lys

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
3830184738074704
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE CYP1B1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000104.4
CDNA CHANGE c.685G>A
PROTEIN CHANGE p.Glu229Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01040.00.00290.00.0040.047

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.010930.00092890.0018720.010460.00.0030770.0079530.0070830.04987

ESP
AAEA
0.0011370.005005
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.490578Polymorphism
DBSNP ID rs57865060
2 combinations linked to CYP1B1:c.685G>A, p.Glu229Lys OLI011; OLI012
1 disease linked to CYP1B1:c.685G>A, p.Glu229Lys Congenital glaucoma
Found any issues with the data on this page? Report this entry.