Mutation details:

cDNA level identifier (n.a.):

c.825+1_825+2delGT

Gene level identifier:

g.52921_52922delGT

Reference, alternative allele:

TAC, T

Genomic location hg(19)

7:94232599

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:

1 heterozygous (1 in total).