cDNA level identifier (NM_022912):
c.183-2A>G
Gene level identifier:
g.83268A>G
Reference, alternative allele:
T, C
Genomic location hg(19)
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
6 heterozygous (6 in total).