Mutation details:

Protein level identifier (NP_899200):

p.Arg1013Cys

cDNA level identifier (NM_183357):

c.3037C>T

Gene level identifier:

g.153649C>T

Archive identifier/Other designation:

p.R1013C

Reference, alternative allele:

G, A

Genomic location hg(19)

3:123014957 (not available on ExAC)

Gene name:

ADCY5

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).