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Details for LMNA:c.976T>A, p.Ser326Thr

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
156106066	156136275

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.976T>A

PROTEIN CHANGE

p.Ser326Thr

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.099132	Polymorphism

DBSNP ID

1 combination linked to LMNA:c.976T>A, p.Ser326Thr

1 disease linked to LMNA:c.976T>A, p.Ser326Thr

Emery-Dreifuss muscular dystrophy

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