Mutation details:

Protein level identifier (NP_001135811):

p.Thr10Thr

cDNA level identifier (NM_001142339):

c.30G>T

Gene level identifier:

g.63508G>T

Reference, alternative allele:

G, T

Genomic location hg(19)

18:11752462

Gene name:

GNAL

Consequence:

silent

Pathogenicity scoring:

Possibly pathogenic

CADD score:

16

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).