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Details for PPFIA4:c.3313C>G, p.Gln1105Glu

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
203037745	203068617

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.3313C>G

PROTEIN CHANGE

p.Gln1105Glu

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	3.626947	Polymorphism

DBSNP ID

1 combination linked to PPFIA4:c.3313C>G, p.Gln1105Glu

1 disease linked to PPFIA4:c.3313C>G, p.Gln1105Glu

Isolated focal cortical dysplasia

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