cDNA level identifier (n.a.):

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

Gene level identifier:

g.52758_52920del

Archive identifier/Other designation:

7:94232057del6822bp

Reference, alternative allele:

C+6822bp, C

Genomic location hg(19)

Gene name:

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).