Mutation details:

Protein level identifier (NP_899200):

p.Ile460Phe

cDNA level identifier (NM_183357):

c.1378A>T

Gene level identifier:

g.101949A>T

Archive identifier/Other designation:

p.I460F

Reference, alternative allele:

T, A

Genomic location hg(19)

3:123066657 (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).