This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for RYR1:p.Thr4823Met

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
39070725	38580085

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Thr4823Met

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
2.387e-05	0.0001845	5.782e-05	0.0	0.0	0.0	8.796e-06	0.0	0.0

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.559263	Disease causing

DBSNP ID

1 combination linked to RYR1:p.Thr4823Met

1 disease linked to RYR1:p.Thr4823Met

Recurrent exertional rhabdomyolysis

Found any issues with the data on this page? Report this entry.