Mutation details:

cDNA level identifier (n.a.):

c.109+1G>T

Gene level identifier:

g.221G>T

Archive identifier/Other designation:

IVS1+1G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

7:94285301

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:

2 heterozygous (2 in total).