Mutation details:

Protein level identifier (n.a.):

p.Ser325Trpfs*9

cDNA level identifier (n.a.):

c.974delC

Gene level identifier:

g.55501delC

Reference, alternative allele:

CG, C

Genomic location hg(19)

7:94230020

Gene name:

SGCE

Consequence:

frameshift deletion

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

9 heterozygous (9 in total).