cDNA level identifier (n.a.):
c.1084-3859_1167+1618del
Gene level identifier:
g.1337036_1342596del
Archive identifier/Other designation:
deletion of exon 10
Reference, alternative allele:
A+5561, A
Genomic location hg(19)
6:161806207 (not available on ExAC)
Gene name:
Consequence:
structural variation includes copy number variants inversions and translocations
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).