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Details for RGS22:c.2386G>A, p.Ala796Thr

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
101011510	99999282

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2386G>A

PROTEIN CHANGE

p.Ala796Thr

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.935716	Polymorphism

DBSNP ID

1 combination linked to RGS22:c.2386G>A, p.Ala796Thr

1 disease linked to RGS22:c.2386G>A, p.Ala796Thr

Autism Spectrum Disorder,Lung disease,Global developmental delay

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