cDNA level identifier (NM_018105):
c.-32C>T
Gene level identifier:
g.200C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
17
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).