Mutation details:

Protein level identifier (NP_001135811):

p.Val354Ala

cDNA level identifier (NM_001142339):

c.1061T>C

Gene level identifier:

g.192095T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

18:11881049 (not available on ExAC)

Gene name:

GNAL

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

28

Positive functional evidence:

30021154;

Number of all included cases:

1 heterozygous (1 in total).

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