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Details for FIG4:c.1032dup, p.Ile345TyrfsTer18

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
110064468	109743265

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

TT

TRANSCRIPT

CDNA CHANGE

c.1032dup

PROTEIN CHANGE

p.Ile345TyrfsTer18

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	5.08553	Polymorphism

DBSNP ID

1 combination linked to FIG4:c.1032dup, p.Ile345TyrfsTer18

1 disease linked to FIG4:c.1032dup, p.Ile345TyrfsTer18

Amyotrophic lateral sclerosis

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