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Details for PIK3R3:c.950A>G, p.Asn317Ser

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
46512289	46046617

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.950A>G

PROTEIN CHANGE

p.Asn317Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0034	0.0	0.0	0.0159	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00121	6.152e-05	2.892e-05	0.0	0.01539	0.0	4.4e-05	0.0003263	0.0003921

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.7102	Polymorphism

DBSNP ID

1 combination linked to PIK3R3:c.950A>G, p.Asn317Ser

1 disease linked to PIK3R3:c.950A>G, p.Asn317Ser

46,XY disorder of sex development

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