cDNA level identifier (NM_018105):
c.-237-3G>T
Gene level identifier:
g.1-9G>T
Reference, alternative allele:
C, A
Genomic location hg(19)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
21
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).