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Details for DCTN1:c.3810C>A, p.His1270Gln

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
74588653	74361526

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3810C>A

PROTEIN CHANGE

p.His1270Gln

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
1.592e-05	0.0	0.0	0.0	0.0	0.0	3.52e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.569669	Disease causing

DBSNP ID

1 combination linked to DCTN1:c.3810C>A, p.His1270Gln

1 disease linked to DCTN1:c.3810C>A, p.His1270Gln

Amyotrophic lateral sclerosis

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