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Details for RNF216:c.1717C>T, p.Arg573Cys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
5754800	5715169

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1717C>T

PROTEIN CHANGE

p.Arg573Cys

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
0.0002833	0.0	5.785e-05	0.0	0.0	0.0	0.0005987	0.0001636	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.977979	Polymorphism

DBSNP ID

1 combination linked to RNF216:c.1717C>T, p.Arg573Cys

1 disease linked to RNF216:c.1717C>T, p.Arg573Cys

Hypogonadotropic hypogonadism with absent puberty phenotype

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