cDNA level identifier (NM_006749):
c.1794+1G>C
Gene level identifier:
g.110795G>C
Reference, alternative allele:
C, G
Genomic location hg(19)
8:42286275 (not available on ExAC)
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).