Details for CYP1B1:c.535del, p.Ala179ArgfsTer18

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
3830199638074853
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE CYP1B1
REFERENCE ALLELE GC
ALTERNATE ALLELE G
TRANSCRIPT NM_000104.4
CDNA CHANGE c.535del
PROTEIN CHANGE p.Ala179ArgfsTer18
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.121e-050.00012730.00019220.00.00.03.391e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.233282Disease causing
DBSNP ID rs771076928
1 combination linked to CYP1B1:c.535del, p.Ala179ArgfsTer18 OLI767
1 disease linked to CYP1B1:c.535del, p.Ala179ArgfsTer18 Congenital glaucoma
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