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Details for PIK3R3:c.838G>A, p.Asp280Asn

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
46521570	46055898

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.838G>A

PROTEIN CHANGE

p.Asp280Asn

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
0.0001	0.0	0.0003793	9.958e-05	0.0	0.0	8.833e-05	0.0001642	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.872164	Polymorphism

DBSNP ID

1 combination linked to PIK3R3:c.838G>A, p.Asp280Asn

1 disease linked to PIK3R3:c.838G>A, p.Asp280Asn

Disorder of sex development

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