cDNA level identifier (n.a.):
c.171+53980_534+4116del
Gene level identifier:
g.338442_530757del
Archive identifier/Other designation:
deletion of exons 3-4
Reference, alternative allele:
T+192315, T
Genomic location hg(19)
6:162618046 (not available on ExAC)
Gene name:
Consequence:
structural variation includes copy number variants inversions and translocations
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).