Details for CYP1B1:c.1103G>A, p.Arg368His

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
3829839438071251
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CYP1B1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000104.4
CDNA CHANGE c.1103G>A
PROTEIN CHANGE p.Arg368His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00420.00.00.00.0020.0194

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0058210.00019630.0021730.022555.464e-054.621e-050.0015610.0059270.03035

ESP
AAEA
0.0011410.00187
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.897917Disease causing
DBSNP ID rs79204362
3 combinations linked to CYP1B1:c.1103G>A, p.Arg368His OLI010; OLI169; OLI460
2 diseases linked to CYP1B1:c.1103G>A, p.Arg368His Congenital glaucoma; Juvenile glaucoma
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