Mutation details:

Protein level identifier (NP_004073):

p.Gly15Ser

cDNA level identifier (NM_004082):

c.43G>A

Gene level identifier:

g.13852G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

2:74605363 (not available on ExAC)

Gene name:

DCTN1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

15

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).