Mutation details:

Protein level identifier (NP_004073):

p.Phe52Leu

cDNA level identifier (NM_004082):

c.156T>G

Gene level identifier:

g.13965T>G

Reference, alternative allele:

A, C

Genomic location hg(0)

2:74605250 (not available on ExAC)

Gene name:

DCTN1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).