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Details for TIMM50:p.Arg342Trp

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
39978719	39488079

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

ENST00000314349.4

CDNA CHANGE

None

PROTEIN CHANGE

p.Arg342Trp

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
7.974e-06	0.0	0.0	0.0	0.0	0.0	1.763e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.556244	Disease causing

DBSNP ID

1 combination linked to TIMM50:p.Arg342Trp

1 disease linked to TIMM50:p.Arg342Trp

Recurrent exertional rhabdomyolysis

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