cDNA level identifier (NM_031418):
c.-190C>T
Gene level identifier:
g.142805C>T
Reference, alternative allele:
C, T
Genomic location hg(19)
11:26353633 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
21
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).