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Details for RNF216:c.785G>A, p.Arg262His

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
5780863	5741232

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.785G>A

PROTEIN CHANGE

p.Arg262His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001352	0.0	0.0005494	0.0	0.0	0.0	9.671e-05	0.0006515	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	0.847	Polymorphism

DBSNP ID

1 combination linked to RNF216:c.785G>A, p.Arg262His

1 disease linked to RNF216:c.785G>A, p.Arg262His

46,XY disorder of sex development

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