Mutation details:

Protein level identifier (NP_899200):

p.Met1029Arg

cDNA level identifier (NM_183357):

c.3086T>G

Gene level identifier:

g.158405T>G

Archive identifier/Other designation:

p.M1029R

Reference, alternative allele:

A, C

Genomic location hg(19)

3:123010201 (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:

4 heterozygous (4 in total).