Mutation details:

Protein level identifier (NP_001135811):

p.Met1?

cDNA level identifier (NM_001142339):

c.3G>A

Gene level identifier:

g.63481G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

18:11752435 (not available on ExAC)

Gene name:

GNAL

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

21

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).