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Details for NDUFS8:p.Ile126Val

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
67803723	68036256

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ile126Val

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
4.041e-06	0.0	0.0	0.0	0.0	0.0	0.0	0.0001656	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.503296	Polymorphism

DBSNP ID

1 combination linked to NDUFS8:p.Ile126Val

1 disease linked to NDUFS8:p.Ile126Val

Recurrent exertional rhabdomyolysis

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