cDNA level identifier (n.a.):
c.1493+1_1493+2insATGG
Gene level identifier:
g.73579_73580insATGG
Archive identifier/Other designation:
IVS12+1_IVS12+2insATGG
Reference, alternative allele:
G, GATGG
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).