Mutation details:

Protein level identifier (n.a.):

p.Asp316llefs*3

cDNA level identifier (n.a.):

c.946delG

Gene level identifier:

g.55473delG

Reference, alternative allele:

TC, T

Genomic location hg(19)

7:94230048

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).