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Details for ADCY5:c.130C>A, p.His44Asn

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
123167263	123448416

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.130C>A

PROTEIN CHANGE

p.His44Asn

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
3.073e-05	0.0	0.0	0.0	0.0	0.0005945	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.073631	Polymorphism

DBSNP ID

1 combination linked to ADCY5:c.130C>A, p.His44Asn

1 disease linked to ADCY5:c.130C>A, p.His44Asn

Amyotrophic lateral sclerosis

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