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Details for GPHN:c.127G>A, p.Val43Ile

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
67147887	66681169

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.127G>A

PROTEIN CHANGE

p.Val43Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	0.0015	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001156	0.0001233	0.000434	0.0	0.0	0.0	8.819e-05	0.0001636	3.269e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.002714	Polymorphism

DBSNP ID

1 combination linked to GPHN:c.127G>A, p.Val43Ile

2 diseases linked to GPHN:c.127G>A, p.Val43Ile

Juvenile myoclonic epilepsy; Generalized epilepsy with febrile seizures-plus

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