Mutation details:

Protein level identifier (n.a.):

p.Trp100*

cDNA level identifier (n.a.):

c.300G>A

Gene level identifier:

g.27918G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

7:94257604

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:

6 heterozygous (6 in total).