Mutation details:

Protein level identifier (NP_001135811):

p.Ser56Lysfs*16

cDNA level identifier (NM_001142339):

c.166dupA

Gene level identifier:

g.63918dupA

Reference, alternative allele:

A, AA

Genomic location hg(19)

18:11752872 (not available on ExAC)

Gene name:

GNAL

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).