Mutation details:

Protein level identifier (NP_004073):

p.Tyr78Cys

cDNA level identifier (NM_004082):

c.233A>G

Gene level identifier:

g.14042A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

2:74605173 (not available on ExAC)

Gene name:

DCTN1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).