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Details for OTUD4:c.998G>T, p.Gly333Val

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
146071731	145150579

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.998G>T

PROTEIN CHANGE

p.Gly333Val

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
0.00037	6.152e-05	0.000347	0.003869	0.0	0.0	0.0002992	0.0008154	6.533e-05

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.373902	Disease causing

DBSNP ID

1 combination linked to OTUD4:c.998G>T, p.Gly333Val

1 disease linked to OTUD4:c.998G>T, p.Gly333Val

Cerebellar ataxia-hypogonadism syndrome

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