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Details for ADA2:c.14G>C, p.Gly5Ala

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
17690554	17209664

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.14G>C

PROTEIN CHANGE

p.Gly5Ala

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	Benign	-0.471429	Polymorphism

DBSNP ID

1 combination linked to ADA2:c.14G>C, p.Gly5Ala

1 disease linked to ADA2:c.14G>C, p.Gly5Ala

Amyotrophic lateral sclerosis

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