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Details for POLG:c.2993C>T, p.Ser998Leu

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
89862570	89319339

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2993C>T

PROTEIN CHANGE

p.Ser998Leu

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
2.011e-05	0.0	5.793e-05	0.0	0.0	0.0	1.779e-05	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.941617	Polymorphism

DBSNP ID

1 combination linked to POLG:c.2993C>T, p.Ser998Leu

1 disease linked to POLG:c.2993C>T, p.Ser998Leu

Isolated focal cortical dysplasia

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