Mutation details:

cDNA level identifier (n.a.):

c.1037+5G>A

Gene level identifier:

g.55569G>A

Archive identifier/Other designation:

IVS7+5G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

7:94229953

Gene name:

SGCE

Consequence:

splice region 4 20bp

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).