cDNA level identifier (n.a.):
c.1005-2A>G
Gene level identifier:
g.52507A>G
Archive identifier/Other designation:
IVS6-2A>G
Reference, alternative allele:
A, G
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous, 1 compound heterozygous (2 in total).