Mutation details:

Protein level identifier (n.a.):

p.Arg207Glyfs*9

cDNA level identifier (n.a.):

c.619_620delAG

Gene level identifier:

g.37409_37410delAG

Reference, alternative allele:

CCT, C

Genomic location hg(19)

7:94248111

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:

26 heterozygous (26 in total).