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Details for OTUD4:c.2689C>T, p.His897Tyr

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
146059043	145137891

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2689C>T

PROTEIN CHANGE

p.His897Tyr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
6.762e-05	0.0006768	8.673e-05	0.0	0.0	0.0	8.796e-06	0.0001631	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.686771	Polymorphism

DBSNP ID

1 combination linked to OTUD4:c.2689C>T, p.His897Tyr

1 disease linked to OTUD4:c.2689C>T, p.His897Tyr

Hypogonadotropic hypogonadism with partial puberty phenotype

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