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Details for ARHGEF28:c.4645G>A, p.Glu1549Lys

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
73205720	73909895

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4645G>A

PROTEIN CHANGE

p.Glu1549Lys

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	Possibly Damaging	2.631155	Polymorphism

DBSNP ID

1 combination linked to ARHGEF28:c.4645G>A, p.Glu1549Lys

1 disease linked to ARHGEF28:c.4645G>A, p.Glu1549Lys

Amyotrophic lateral sclerosis

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