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Details for PROKR2:c.802C>T, p.Arg268Cys

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5283039	5302393

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.802C>T

PROTEIN CHANGE

p.Arg268Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0126	0.0446	0.0058	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003911	0.04625	0.003036	0.004267	0.0	0.0001387	0.0004487	0.003911	0.000196

ESP
AA	EA
0.04222	0.0005814

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.029314	Polymorphism

DBSNP ID

4 combinations linked to PROKR2:c.802C>T, p.Arg268Cys

OLI208; OLI285; OLI286; OLI689

2 diseases linked to PROKR2:c.802C>T, p.Arg268Cys

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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