cDNA level identifier (n.a.):
c.1-17782_7+123791del
Gene level identifier:
g.-17679_123901del
Archive identifier/Other designation:
deletion of promotor + exon 1
Reference, alternative allele:
G+141580, G
Genomic location hg(19)
6:163024902 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).