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Details for PDPR:c.697G>C, p.Glu233Gln

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
70164415	70130512

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.697G>C

PROTEIN CHANGE

p.Glu233Gln

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
4.013e-06	6.463e-05	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.78929	Polymorphism

DBSNP ID

1 combination linked to PDPR:c.697G>C, p.Glu233Gln

1 disease linked to PDPR:c.697G>C, p.Glu233Gln

Rare pervasive developmental disorder

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