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Details for OTUD4:c.909C>A, p.Ser303Arg

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
146071820	145150668

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.909C>A

PROTEIN CHANGE

p.Ser303Arg

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
0.001043	0.007041	0.0001474	0.0003011	0.00135	0.0004382	0.0008787	0.001168	6.559e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.730263	Polymorphism

DBSNP ID

1 combination linked to OTUD4:c.909C>A, p.Ser303Arg

1 disease linked to OTUD4:c.909C>A, p.Ser303Arg

Hypogonadotropic hypogonadism with absent puberty phenotype

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