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Details for DYSF:c.5946G>A, p.Ala1982=

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
71906365	71679235

VARIANT EFFECT

splicing

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5946G>A

PROTEIN CHANGE

p.Ala1982=

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0015	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001315	0.00111	2.896e-05	0.0	5.442e-05	0.0	0.0001058	0.0	3.27e-05

ESP
AA	EA
0.000227	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.049744	Disease causing

DBSNP ID

1 combination linked to DYSF:c.5946G>A, p.Ala1982=

1 disease linked to DYSF:c.5946G>A, p.Ala1982=

Limb-girdle muscular dystrophy

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