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Details for SCN9A:c.980G>A, p.Gly327Glu

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
167149868	166293358

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.980G>A

PROTEIN CHANGE

p.Gly327Glu

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
4.567e-05	0.0	0.0	0.0	0.0006271	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.5309	Disease causing

DBSNP ID

1 combination linked to SCN9A:c.980G>A, p.Gly327Glu

1 disease linked to SCN9A:c.980G>A, p.Gly327Glu

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