Mutation details:

Protein level identifier (n.a.):

p.Phe67Glufs*22

cDNA level identifier (n.a.):

c.198_199insGAGAATA

Gene level identifier:

g.26457_26458insGAGGAATA

Reference, alternative allele:

A, ATATTCTC

Genomic location hg(19)

7:94259064

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:

2 heterozygous (2 in total).