Mutation details:

Protein level identifier (NP_899200):

p.Arg418Gln

cDNA level identifier (NM_183357):

c.1253G>A

Gene level identifier:

g.97296G>A

Archive identifier/Other designation:

p.R418Q

Reference, alternative allele:

C, T

Genomic location hg(19)

3:123071310 (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:

8 heterozygous (8 in total).

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