Mutation details:

Protein level identifier (NP_001135811):

p.Arg21*

cDNA level identifier (NM_001142339):

c.61C>T

Gene level identifier:

g.63539C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

18:11752493 (not available on ExAC)

Gene name:

GNAL

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).