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Details for LMNA:c.1930C>T, p.Arg644Cys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
156108510	156138719

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1930C>T

PROTEIN CHANGE

p.Arg644Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001187	0.000504	0.0002605	0.0	0.0	0.0002781	0.001973	0.001149	0.00147

ESP
AA	EA
0.001135	0.001047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.131679	Polymorphism

DBSNP ID

1 combination linked to LMNA:c.1930C>T, p.Arg644Cys

1 disease linked to LMNA:c.1930C>T, p.Arg644Cys

Emery-Dreifuss muscular dystrophy

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