Mutation details:

Protein level identifier (n.a.):

p.Ile256Asnfs*3

cDNA level identifier (n.a.):

c.766_767delAT

Gene level identifier:

g.52861_52862delAT

Reference, alternative allele:

TAT, T

Genomic location hg(19)

7:94232659

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).