Mutation details:

Protein level identifier (n.a.):

p.Pro296Serfs*2

cDNA level identifier (n.a.):

c.885insT

Gene level identifier:

g.55412insT

Reference, alternative allele:

G, GA

Genomic location hg(19)

7:94230109

Gene name:

SGCE

Consequence:

frameshift insertion

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).