Mutation details:

Protein level identifier (NP_001135811):

p.Val234Ile

cDNA level identifier (NM_001142339):

c.700G>A

Gene level identifier:

g.179608G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

18:11868562 (not available on ExAC)

Gene name:

GNAL

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

30021154;

Number of all included cases:

1 heterozygous (1 in total).

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