cDNA level identifier (n.a.):

c.172-131341_412-33982delinsTTACGTATTAAACAAACATTACATT

Gene level identifier:

g.333667_499229delinsTTACGTATTAAACAAACATTACATT

Archive identifier/Other designation:

deletion of exon 3

Reference, alternative allele:

T+165563, T+AATGTAATGTTTGTTTAATACGTAA

Genomic location hg(19)

6:162649574 (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:

3 compound heterozygous (3 in total).