cDNA level identifier (n.a.):

c.619-46638_871+105513del

Gene level identifier:

g.707717_1047513del

Archive identifier/Other designation:

deletion of exons 6-7

Reference, alternative allele:

C+339kb, C

Genomic location hg(19)

6:162101290 (not available on ExAC)

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:

1 homozygous (1 in total).