Mutation details:

Protein level identifier (NP_899200):

p.Lys694_Met696

cDNA level identifier (NM_183357):

c.2080_2088del

Gene level identifier:

g.124429_124437delAAGCGGATG

Archive identifier/Other designation:

p.K694_M696

Reference, alternative allele:

TCCGCTTCAT, T

Genomic location hg(19)

3:123044171 (not available on ExAC)

Gene name:

ADCY5

Consequence:

unknown effect

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).