Mutation details:

Protein level identifier (NP_001135811):

p.Cys352Cys

cDNA level identifier (NM_001142339):

c.1056C>T

Gene level identifier:

g.192090C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

18:11881044

Gene name:

GNAL

Consequence:

silent

Pathogenicity scoring:

Possibly pathogenic

CADD score:

19

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).