Mutation details:

cDNA level identifier (NM_183357):

c.2088+1G>A

Gene level identifier:

g.124438G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

3:123044168 (not available on ExAC)

Gene name:

ADCY5

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).