Mutation details:

Protein level identifier (NP_001135811):

p.Phe133Leu

cDNA level identifier (NM_001142339):

c.399C>A

Gene level identifier:

g.135968C>A

Reference, alternative allele:

C, A

Genomic location hg(19)

18:11824922 (not available on ExAC)

Gene name:

GNAL

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

26810727; 30021154;

Number of all included cases:

1 heterozygous (1 in total).