Mutation details:

Protein level identifier (NP_001135811):

p.Ala353Thr

cDNA level identifier (NM_001142339):

c.1057G>A

Gene level identifier:

g.192091G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

18:11881045 (not available on ExAC)

Gene name:

GNAL

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Positive functional evidence:

24535567; 30021154;

Number of all included cases:

1 heterozygous (1 in total).