Mutation details:

Protein level identifier (n.a.):

p.Gly210Glyfs*7

cDNA level identifier (n.a.):

c.626dupG

Gene level identifier:

g.37416dupG

Reference, alternative allele:

G, GC

Genomic location hg(19)

7:94248105

Gene name:

SGCE

Consequence:

frameshift insertion

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).