Mutation details:

Protein level identifier (n.a.):

p.Trp283*

cDNA level identifier (n.a.):

c.848G>A

Gene level identifier:

g.14505G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

3:148925338 (not available on ExAC)

Gene name:

CP

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

40

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).