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Details for PRKAR1A:c.221G>A, p.Arg74His

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
66518940	68522799

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.221G>A

PROTEIN CHANGE

p.Arg74His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.0	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004139	0.0	0.001041	0.0	5.437e-05	0.0	0.0003258	0.001631	0.0006534

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.333347	Polymorphism

DBSNP ID

1 combination linked to PRKAR1A:c.221G>A, p.Arg74His

1 disease linked to PRKAR1A:c.221G>A, p.Arg74His

Syndrome with 46,XY disorder of sex development

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