Details for CYP1A1:c.927C>T, p.Asn309=

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
7501395774721616
VARIANT EFFECT silent
ANNOTATION FLAG automatically_attributed_and_verified
GENE CYP1A1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000499.4
CDNA CHANGE c.927C>T
PROTEIN CHANGE p.Asn309=
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00.00.0040.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00029830.00.00.00.0038060.00.00.00.0001633

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone-0.316947Polymorphism
DBSNP ID rs368742906
1 combination linked to CYP1A1:c.927C>T, p.Asn309= OLI349
1 disease linked to CYP1A1:c.927C>T, p.Asn309= 46,XY disorder of sex development

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