Mutation details:

cDNA level identifier (n.a.):

c.232+1G>A

Archive identifier/Other designation:

IVS2+1G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

7:94259030

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:

3 heterozygous (3 in total).