Mutation details:

Protein level identifier (NP_004073):

p.Gly71Ala

cDNA level identifier (NM_004082):

c.212G>C

Gene level identifier:

g.14021G>C

Reference, alternative allele:

C, G

Genomic location hg(0)

2:74605194 (not available on ExAC)

Gene name:

DCTN1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

20518521; 29273399;

Number of all included cases:

10 heterozygous (10 in total).