Mutation details:

Protein level identifier (NP_001135811):

p.Val228Phe

cDNA level identifier (NM_001142339):

c.682G>T

Gene level identifier:

g.179590G>T

Reference, alternative allele:

G, T

Genomic location hg(19)

18:11868544 (not available on ExAC)

Gene name:

GNAL

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Positive functional evidence:

23449625; 30021154;

Number of all included cases:

5 heterozygous (5 in total).