Mutation details:

Protein level identifier (n.a.):

p.Thr279Alafs*17

cDNA level identifier (n.a.):

c.835-839delACAAA

Gene level identifier:

g.55362_55366delACAAA

Reference, alternative allele:

CTTTGT, C

Genomic location hg(19)

7:94230155

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).