cDNA level identifier (n.a.):
c.1322_31del29
Gene level identifier:
g.73236_73264del29
Archive identifier/Other designation:
IVS10-31del29
Reference, alternative allele:
TAATTAAAGTCTTATACTTGTATTTCCTCT, T
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Possibly pathogenic
CADD score:
13
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).