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Details for SGCA:c.850C>T, p.Arg284Cys

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
48247606	50170245

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.850C>T

PROTEIN CHANGE

p.Arg284Cys

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
0.0001511	6.152e-05	0.0001735	0.0006946	0.0	0.0	0.0001495	0.0003258	0.0001633

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.411782	Disease causing

DBSNP ID

1 combination linked to SGCA:c.850C>T, p.Arg284Cys

1 disease linked to SGCA:c.850C>T, p.Arg284Cys

Limb-girdle muscular dystrophy

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