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Details for CYP1A1:c.1303C>A, p.Arg435Ser

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
75013066	74720725

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1303C>A

PROTEIN CHANGE

p.Arg435Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.469015	Polymorphism

DBSNP ID

1 combination linked to CYP1A1:c.1303C>A, p.Arg435Ser

1 disease linked to CYP1A1:c.1303C>A, p.Arg435Ser

Disorder of sex development

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