cDNA level identifier (NM_018105):
c.72-1G>A
Gene level identifier:
g.3944G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
8:42694525 (not available on ExAC)
Gene name:
Consequence:
splice site 1 3bp
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).