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Details for NDUFS8:p.Arg2Cys

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
67799622	68032155

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg2Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001659	0.001169	0.0006939	0.0	0.000435	0.0006468	0.003011	0.001141	9.799e-05

ESP
AA	EA
0.0009091	0.003144

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Unknown	1.8558	Polymorphism

DBSNP ID

1 combination linked to NDUFS8:p.Arg2Cys

1 disease linked to NDUFS8:p.Arg2Cys

Recurrent exertional rhabdomyolysis

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