Mutation details:

Protein level identifier (n.a.):

p.Arg207Glyfs*12

cDNA level identifier (n.a.):

c.619delA

Gene level identifier:

g.37409delA

Reference, alternative allele:

CT, C

Genomic location hg(19)

7:94248112

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:

5 heterozygous (5 in total).