Mutation details:

cDNA level identifier (n.a.):

c.(662+1_663-1)_(825+1_826-1)del

Archive identifier/Other designation:

Exon6del

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:

4 heterozygous (4 in total).

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