Mutation details:

Protein level identifier (NP_899200):

p.Leu720Pro

cDNA level identifier (NM_183357):

c.2159T>C

Gene level identifier:

g.129988T>C

Archive identifier/Other designation:

p.L720P

Reference, alternative allele:

A, G

Genomic location hg(19)

3:123038618 (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).