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Details for PROKR2:c.58delC, p.His20MetfsTer24

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5294957	5314311

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TG

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.58delC

PROTEIN CHANGE

p.His20MetfsTer24

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	3.865547	Disease causing

DBSNP ID

1 combination linked to PROKR2:c.58delC, p.His20MetfsTer24

1 disease linked to PROKR2:c.58delC, p.His20MetfsTer24

Normosmic congenital hypogonadotropic hypogonadism

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