Mutation details:

Protein level identifier (NP_004073):

p.G71E

cDNA level identifier (NM_004082):

c.212G>A

Gene level identifier:

g.14021G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

2:74605194 (not available on ExAC)

Gene name:

DCTN1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

25

Positive functional evidence:

not available

Number of all included cases:

8 heterozygous (8 in total).

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