cDNA level identifier (NM_032409):
c.1252-2_1272del
Gene level identifier:
g.15539_15561del23
Archive identifier/Other designation:
23bp deletion
Reference, alternative allele:
CAGGTGTCCACGGCCCGTCCTGGC, C
Genomic location
1:20975485 (not available on ExAC)
Gene name:
Consequence:
splice site 1 3bp
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
Number of all included cases:
1 compound heterozygous (1 in total).