Mutation details:

cDNA level identifier (n.a.):

c.662+1insG

Gene level identifier:

g.37453insG

Archive identifier/Other designation:

IVS5+1insG

Reference, alternative allele:

A, AC

Genomic location hg(19)

7:94248068

Gene name:

SGCE

Consequence:

splice site 1 3bp

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).