Mutation details:

cDNA level identifier (n.a.):

c.1864+1G>C

Gene level identifier:

g.34005G>C

Archive identifier/Other designation:

IVS10+1G>C

Reference, alternative allele:

C, G

Genomic location hg(0)

3:148905838 (not available on ExAC)

Gene name:

CP

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).