Protein level identifier (n.a.):

p.Val3Glufs*3

cDNA level identifier (n.a.):

c.8-60777_171+2682del

Gene level identifier:

g.223522_287144del

Archive identifier/Other designation:

deletion of exon 2

Reference, alternative allele:

A+63623, A

Genomic location hg(19)

6:162837520 (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 compound heterozygous (1 in total).