cDNA level identifier (n.a.):
c.1322-2A>C
Gene level identifier:
g.73265A>C
Archive identifier/Other designation:
IVS10-2A>C
Reference, alternative allele:
A, C
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).