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Details for DCTN1:c.59C>T, p.Ala20Val

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
74605347	74378220

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.59C>T

PROTEIN CHANGE

p.Ala20Val

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
1.211e-05	0.0	0.0	0.0	0.0	0.0	0.0	0.0001641	6.534e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.150253	Polymorphism

DBSNP ID

1 combination linked to DCTN1:c.59C>T, p.Ala20Val

1 disease linked to DCTN1:c.59C>T, p.Ala20Val

Amyotrophic lateral sclerosis

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