Mutation details:

Protein level identifier (NP_004073):

p.Gly71Arg

cDNA level identifier (NM_004082):

c.211G>A

Gene level identifier:

g.14020G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

2:74605195 (not available on ExAC)

Gene name:

DCTN1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

24676999; 24881494;

Number of all included cases:

12 heterozygous (12 in total).