cDNA level identifier (n.a.):
c.1536+1G>T
Gene level identifier:
g.78337G>T
Archive identifier/Other designation:
IVS13+1G>T
Reference, alternative allele:
G, T
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).