Mutation details:

cDNA level identifier (n.a.):

c.391-3T>C

Gene level identifier:

g.32810T>C

Archive identifier/Other designation:

IVS3-3T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

7:94252712

Gene name:

SGCE

Consequence:

splice site 1 3bp

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).