Mutation details:

Protein level identifier (NP_001135811):

p.Val354Met

cDNA level identifier (NM_001142339):

c.1060G>A

Gene level identifier:

g.192094G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

18:11881048 (not available on ExAC)

Gene name:

GNAL

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).