Details for CYP1A1:c.518C>G, p.Thr173Arg

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
7501492174722580
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CYP1A1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000499.4
CDNA CHANGE c.518C>G
PROTEIN CHANGE p.Thr173Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00.00.0060.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00073190.00.00.00069490.0092970.00.00.00.000196

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.170064Polymorphism
DBSNP ID rs28399427
1 combination linked to CYP1A1:c.518C>G, p.Thr173Arg OLI348
1 disease linked to CYP1A1:c.518C>G, p.Thr173Arg 46,XY disorder of sex development
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