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Details for SCN9A:c.2132T>C, p.Leu711Ser

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
167137045	166280535

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.2132T>C

PROTEIN CHANGE

p.Leu711Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.004	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002577	0.0	0.0	0.0	0.003426	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.963094	Disease causing

DBSNP ID

1 combination linked to SCN9A:c.2132T>C, p.Leu711Ser

1 disease linked to SCN9A:c.2132T>C, p.Leu711Ser

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