cDNA level identifier (n.a.):

c.8-54_171+49del

Gene level identifier:

g.284245_284511del

Archive identifier/Other designation:

deletion of exon 2

Reference, alternative allele:

C+267bp, C

Genomic location hg(19)

6:162864292 (not available on ExAC)

Gene name:

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).