Mutation details:

Protein level identifier (n.a.):

p.Arg210Glnfs*7

cDNA level identifier (n.a.):

c.625insG

Gene level identifier:

g.37415insG

Reference, alternative allele:

C, GC

Genomic location hg(19)

7:94248106

Gene name:

SGCE

Consequence:

frameshift insertion

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).