This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for DCTN1:c.*21C>T,

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
74588605	74361478

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.*21C>T

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0106	0.0023	0.0231	0.0	0.0288	0.0051

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.02266	0.005057	0.02002	0.03345	0.0	0.03031	0.03152	0.02824	0.00572

ESP
AA	EA
0.006582	0.03174

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	0.383457	Polymorphism

DBSNP ID

1 combination linked to DCTN1:c.*21C>T,

1 disease linked to DCTN1:c.*21C>T,

Amyotrophic lateral sclerosis

Found any issues with the data on this page? Report this entry.