cDNA level identifier (n.a.):
c.1068+1G>T
Gene level identifier:
g.51112G>T
Archive identifier/Other designation:
IVS10+1G>T
Reference, alternative allele:
C, A
Genomic location
3:33087611 (not available on ExAC)
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).