Mutation details:

Protein level identifier (n.a.):

p.Leu384Argfs*10

cDNA level identifier (n.a.):

c.1151delT

Gene level identifier:

g.57333delT

Reference, alternative allele:

CA, C

Genomic location hg(19)

7:94228188

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:

2 heterozygous (2 in total).