cDNA level identifier (n.a.):
c.1493+1G>A
Gene level identifier:
g.73579G>A
Archive identifier/Other designation:
IVS12+1G>A
Reference, alternative allele:
G, A
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
6 heterozygous, 1 compound heterozygous (7 in total).