Mutation details:

cDNA level identifier (n.a.):

c.(109+1_110-1)_(232+1_233-1)del

Archive identifier/Other designation:

Exon2del

Genomic location hg(19)

null:null

Gene name:

SGCE

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).

×