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Details for OTUD4:c.1458G>T, p.Lys486Asn

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
146064547	145143395

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1458G>T

PROTEIN CHANGE

p.Lys486Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.003	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001755	0.002277	5.802e-05	0.0	0.0	0.0	0.0	0.0003271	9.826e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.412771	Polymorphism

DBSNP ID

1 combination linked to OTUD4:c.1458G>T, p.Lys486Asn

1 disease linked to OTUD4:c.1458G>T, p.Lys486Asn

Hypogonadotropic hypogonadism with absent puberty phenotype

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