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Details for POLG2:c.714_716del, p.238_239del

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
62488862	64492745

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TAAC

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.714_716del

PROTEIN CHANGE

p.238_239del

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
7.968e-05	0.0	0.0	0.0	0.0	0.0002325	0.000132	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.400996	Disease causing

DBSNP ID

1 combination linked to POLG2:c.714_716del, p.238_239del

1 disease linked to POLG2:c.714_716del, p.238_239del

Amyotrophic lateral sclerosis

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