Mutation details:

Protein level identifier (NP_001135811):

p.Ala311Thr

cDNA level identifier (NM_001142339):

c.931G>A

Gene level identifier:

g.183443G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

18:11872397

Gene name:

GNAL

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).