Mutation details:

cDNA level identifier (NM_001142339):

c.274-5T>C

Gene level identifier:

g.64866T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

18:11753820

Gene name:

GNAL

Consequence:

splice region

Pathogenicity scoring:

Possibly pathogenic

CADD score:

2

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).