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Details for GBE1:c.1864_1866del, p.Leu622del

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
81584413	81535262

VARIANT EFFECT

deletion

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

AAAG

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1864_1866del

PROTEIN CHANGE

p.Leu622del

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	1.555558	Disease causing

DBSNP ID

1 combination linked to GBE1:c.1864_1866del, p.Leu622del

1 disease linked to GBE1:c.1864_1866del, p.Leu622del

Arthrogryposis syndrome

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