Mutation details:

cDNA level identifier (n.a.):

c.(1328+1_1329-1)_(1372+1_1373-1)del

Archive identifier/Other designation:

Exon11del

Genomic location hg(19)

null:null

Gene name:

SGCE

Consequence:

structural variation includes copy number variants inversions and translocations

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).

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