Mutation details:

Protein level identifier (n.a.):

p.Trp1036*

cDNA level identifier (n.a.):

c.3107G>A

Gene level identifier:

g.45732G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

3:148894111 (not available on ExAC)

Gene name:

CP

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

42

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).