Mutation details:

Protein level identifier (NP_001135811):

p.Val137Met

cDNA level identifier (NM_001142339):

c.409G>A

Gene level identifier:

g.135978G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

18:11824932 (not available on ExAC)

Gene name:

GNAL

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Positive functional evidence:

23222958; 30021154;

Number of all included cases:

7 heterozygous (7 in total).