cDNA level identifier (n.a.):

c.872-60873_1167+2393del

Gene level identifier:

g.1097483_1343371del

Archive identifier/Other designation:

deletion of exons 8-10

Reference, alternative allele:

T+245828, T

Genomic location hg(19)

6:161805432 (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).