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Details for PROK2:c.208_209del, p.Pro70ThrfsTer4

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
71830630	71781479

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

TGG

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.208_209del

PROTEIN CHANGE

p.Pro70ThrfsTer4

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	5.681956	Disease causing

DBSNP ID

1 combination linked to PROK2:c.208_209del, p.Pro70ThrfsTer4

1 disease linked to PROK2:c.208_209del, p.Pro70ThrfsTer4

Kallmann syndrome

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