cDNA level identifier (NM_018105):
c.-220C>T
Gene level identifier:
g.12C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
8:42698457 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
20
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).