Mutation details:

Protein level identifier (NP_899200):

p.Arg438Pro

cDNA level identifier (NM_183357):

c.1313G>C

Gene level identifier:

g.101884G>C

Archive identifier/Other designation:

p.R438P

Reference, alternative allele:

C, G

Genomic location hg(19)

3:123066722 (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:

1 heterozygous (1 in total).