Mutation details:

Protein level identifier (n.a.):

p.Ser233Leufs*14

cDNA level identifier (n.a.):

c.697delT

Gene level identifier:

g.52792delT

Reference, alternative allele:

GA, G

Genomic location hg(19)

7:94232729

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).