Mutation details:

Protein level identifier (n.a.):

p.Phe139*

cDNA level identifier (n.a.):

c.416_419delTTGA

Gene level identifier:

g.32838_32841delTTGA

Reference, alternative allele:

CTCAA, C

Genomic location hg(19)

7:94252680

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:

4 heterozygous (4 in total).