Mutation details:

Protein level identifier (n.a.):

p.Thr353Argfs*24

cDNA level identifier (n.a.):

c.1058_1062delCACCA

Gene level identifier:

g.56507_56511delCACCA

Reference, alternative allele:

CTGGTG, C

Genomic location hg(19)

7:94229010

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).