Mutation details:

cDNA level identifier (n.a.):

c.233-1G>T

Gene level identifier:

g.27850G>T

Archive identifier/Other designation:

IVS2–1G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

7:94257672

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:

7 heterozygous (7 in total).