Mutation details:

Protein level identifier (NP_001135811):

p.Ser95*

cDNA level identifier (NM_001142339):

c.284C>A

Gene level identifier:

g.64881C>A

Reference, alternative allele:

C, A

Genomic location hg(19)

18:11753835 (not available on ExAC)

Gene name:

GNAL

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

37

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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