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Details for RNF216:c.2149C>T, p.Arg717Cys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
5692054	5652423

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2149C>T

PROTEIN CHANGE

p.Arg717Cys

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.049048	Disease causing

DBSNP ID

1 combination linked to RNF216:c.2149C>T, p.Arg717Cys

1 disease linked to RNF216:c.2149C>T, p.Arg717Cys

Hypogonadotropic hypogonadism with absent puberty phenotype

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