cDNA level identifier (n.a.):
c.872-1G>C
Gene level identifier:
g.1158357G>C
Archive identifier/Other designation:
IVS7-1G>C
Reference, alternative allele:
C, G
Genomic location hg(19)
Gene name:
Consequence:
splice site 1 3bp
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).