Mutation details:

cDNA level identifier (n.a.):

c.232 +2T>C

Gene level identifier:

g.26493T>C

Archive identifier/Other designation:

IV2+2T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

7:94259029

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).