Mutation details:

Protein level identifier (n.a.):

p.Thr279Alafs*17

cDNA level identifier (n.a.):

c.832_836delAAAAC

Gene level identifier:

g.55359_55363delAAAAC

Reference, alternative allele:

TGTTTT, T

Genomic location hg(19)

7:94230158

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:

3 heterozygous (3 in total).