Mutation details:

Protein level identifier (NP_001135811):

p.Lys138Arg

cDNA level identifier (NM_001142339):

c.413A>G

Gene level identifier:

g.135982A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

18:11824936 (not available on ExAC)

Gene name:

GNAL

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).