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Details for ARHGEF28:c.1969C>T, p.Pro657Ser

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
73153966	73858141

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1969C>T

PROTEIN CHANGE

p.Pro657Ser

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
4.045e-06	0.0	0.0	0.0	5.586e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.400848	Polymorphism

DBSNP ID

1 combination linked to ARHGEF28:c.1969C>T, p.Pro657Ser

1 disease linked to ARHGEF28:c.1969C>T, p.Pro657Ser

Amyotrophic lateral sclerosis

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