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Details for PROK2:c.163del, p.Ser54_Ile55insTer

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
71830676	71781525

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

AT

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.163del

PROTEIN CHANGE

p.Ser54_Ile55insTer

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.893584	Disease causing

DBSNP ID

1 combination linked to PROK2:c.163del, p.Ser54_Ile55insTer

1 disease linked to PROK2:c.163del, p.Ser54_Ile55insTer

Hypogonadotropic hypogonadism with absent puberty phenotype

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