Mutation details:

Protein level identifier (NP_899200):

p.Arg418Trp

cDNA level identifier (NM_183357):

c.1252C>T

Gene level identifier:

g.97295C>T

Archive identifier/Other designation:

p.R418W

Reference, alternative allele:

G, A

Genomic location hg(19)

3:123071311 (not available on ExAC)

Gene name:

ADCY5

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

29 heterozygous (29 in total).