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Details for LMNA:c.647G>A, p.Arg216His

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
156104603	156134812

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.647G>A

PROTEIN CHANGE

p.Arg216His

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
2.389e-05	0.0	0.0	0.0	0.0	0.0	4.4e-05	0.0001633	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	4.098204	Disease causing

DBSNP ID

1 combination linked to LMNA:c.647G>A, p.Arg216His

1 disease linked to LMNA:c.647G>A, p.Arg216His

Dilated cardiomyopathy

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