Mutation details:

Protein level identifier (NP_899200):

p.Gly137Cysfs*184

cDNA level identifier (NM_183357):

c.409_428delGGCGGCTCGGCGGCGGCGGC

Gene level identifier:

g.1622_1641del20

Archive identifier/Other designation:

p.G137Cfs*184

Reference, alternative allele:

AGCCGCCGCCGCCGAGCCGCC, A

Genomic location hg(19)

3:123166964 (not available on ExAC)

Gene name:

ADCY5

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).

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