Mutation details:

Protein level identifier (NP_001135811):

p.Glu12Gly

cDNA level identifier (NM_001142339):

c.35A>G

Gene level identifier:

g.63513A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

18:11752467 (not available on ExAC)

Gene name:

GNAL

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

21

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).