cDNA level identifier (n.a.):
c.1864+1G>C
Gene level identifier:
g.34005G>C
Archive identifier/Other designation:
IVS10+1G>C
Reference, alternative allele:
C, G
Genomic location hg(0)
3:148905838 (not available on ExAC)
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 n.a. (1 in total).