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Details for CTU2:c.1439C>T, p.Pro480Leu

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
88781475	88715067

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1439C>T

PROTEIN CHANGE

p.Pro480Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0015	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001754	0.0002688	0.0001565	0.0	0.0006713	5.891e-05	0.0001423	0.0	8.277e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.810464	Polymorphism

DBSNP ID

1 combination linked to CTU2:c.1439C>T, p.Pro480Leu

1 disease linked to CTU2:c.1439C>T, p.Pro480Leu

Syndrome with 46,XY disorder of sex development

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