Mutation details:

Protein level identifier (NP_001135811):

p.Arg245*

cDNA level identifier (NM_001142339):

c.733C>T

Gene level identifier:

g.179641C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

18:11868595

Gene name:

GNAL

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

40

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).