Mutation details:

Protein level identifier (n.a.):

p.Glu65*

cDNA level identifier (n.a.):

c.193G>T

Gene level identifier:

g.26452G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

7:94259070

Gene name:

SGCE

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).