cDNA level identifier (NM_022912):
c.106-4A>G
Gene level identifier:
g.74039A>G
Reference, alternative allele:
T, C
Genomic location hg(19)
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).