Mutation details:

Protein level identifier (NP_001135811):

p.Ala353Ala

cDNA level identifier (NM_001142339):

c.1059C>T

Gene level identifier:

g.192093C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

18:11881047

Gene name:

GNAL

Consequence:

silent

Pathogenicity scoring:

Possibly pathogenic

CADD score:

21

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).