Protein level identifier (n.a.):
p.Ala138Glyfs*7
cDNA level identifier (n.a.):
c.413-19615_534+16749del
Gene level identifier:
g.506905_543390del
Archive identifier/Other designation:
deletion of exon 4
Reference, alternative allele:
T+36486, T
Genomic location hg(19)
6:162605413 (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 compound heterozygous (1 in total).