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Details for EMD:c.110_112delAGA, p.Lys37del

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
153608070	154379710

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

GAGA

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.110_112delAGA

PROTEIN CHANGE

p.Lys37del

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
1.149e-05	8.629e-05	0.0	0.0	0.0	0.0	1.31e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.662712	Polymorphism

DBSNP ID

1 combination linked to EMD:c.110_112delAGA, p.Lys37del

1 disease linked to EMD:c.110_112delAGA, p.Lys37del

Emery-Dreifuss muscular dystrophy

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