Mutation details:

Protein level identifier (n.a.):

p.Ser325*

cDNA level identifier (n.a.):

c.974_977delCGGC

Gene level identifier:

g.55501_55504delCGGC

Reference, alternative allele:

TGCCG, T

Genomic location hg(19)

7:94230017

Gene name:

SGCE

Consequence:

frameshift deletion

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).