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Details for PROKR2:c.905C>T, p.Pro302Leu

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5282936	5302290

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.905C>T

PROTEIN CHANGE

p.Pro302Leu

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
Tolerated	Damaging	3.609464	Disease causing

DBSNP ID

1 combination linked to PROKR2:c.905C>T, p.Pro302Leu

1 disease linked to PROKR2:c.905C>T, p.Pro302Leu

Kallmann syndrome

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