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Details for PROKR2:c.253C>T, p.Arg85Cys

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5294763	5314117

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.253C>T

PROTEIN CHANGE

p.Arg85Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	0.0008	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005925	0.001292	0.001417	0.002083	0.0002175	0.0	0.0003692	0.001954	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.012438	Disease causing

DBSNP ID

2 combinations linked to PROKR2:c.253C>T, p.Arg85Cys

OLI014; OLI1110

2 diseases linked to PROKR2:c.253C>T, p.Arg85Cys

Pituitary stalk interruption syndrome; Kallmann syndrome

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