Mutation details:

Protein level identifier (NP_004073):

p.Gln74Pro

cDNA level identifier (NM_004082):

c.221A>C

Gene level identifier:

g.14030A>C

Reference, alternative allele:

T, G

Genomic location hg(0)

2:74605185 (not available on ExAC)

Gene name:

DCTN1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

20518521; 24881494;

Number of all included cases:

2 heterozygous (2 in total).

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