Mutation details:

Protein level identifier (NP_001135811):

p.Ser293*

cDNA level identifier (NM_001142339):

c.878C>A

Gene level identifier:

g.183390C>A

Reference, alternative allele:

C, A

Genomic location hg(19)

18:11872344 (not available on ExAC)

Gene name:

GNAL

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

42

Positive functional evidence:

23222958;

Number of all included cases:

6 heterozygous (6 in total).

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