Mutation details:

Protein level identifier (NP_899200):

p.Arg727Lys

cDNA level identifier (NM_183357):

c.2180G>A

Gene level identifier:

g.130009G>A

Archive identifier/Other designation:

p.R727K

Reference, alternative allele:

C, T

Genomic location hg(19)

3:123038597 (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 heterozygous (2 in total).