Mutation details:

Protein level identifier (NP_004073):

p.Gly67Asp

cDNA level identifier (NM_004082):

c.200G>A

Gene level identifier:

g.14009G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

2:74605206 (not available on ExAC)

Gene name:

DCTN1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).