Mutation details:

cDNA level identifier (n.a.):

c.1209-2A>G

Gene level identifier:

g.19813A>G

Archive identifier/Other designation:

IVS6-2A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

3:148920030 (not available on ExAC)

Gene name:

CP

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).