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Details for TARDBP:c.1243_*3delinsATCGATG,

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
11082709	11022652

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TAGACA

ALTERNATE ALLELE

ATCGATG

TRANSCRIPT

CDNA CHANGE

c.1243_*3delinsATCGATG

PROTEIN CHANGE

None

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
None	None	1.219314	None

DBSNP ID

1 combination linked to TARDBP:c.1243_*3delinsATCGATG,

1 disease linked to TARDBP:c.1243_*3delinsATCGATG,

Amyotrophic lateral sclerosis

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