NTHL1 Chromosome 16
Nth like DNA glycosylase 1
Upload your DNA to see your personal genotypes for variants in NTHL1.
What This Gene Does
The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
DNA glycosylases
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000065057
Associated Conditions (8)
Hereditary cancer-predisposing syndrome
NTHL1-related disorder
Familial adenomatous polyposis 3
NTHL1-deficiency tumor predisposition syndrome
Inherited polyposis and early onset colorectal cancer - germline testing
Ovarian serous cystadenocarcinoma
Uterine corpus endometrial carcinoma
Familial adenomatous polyposis 1
Key Variants
RS1034291686
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, NTHL1-related disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS1036098566
Conflicting classifications of pathogenicity
Health Risk
RS1056290046
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS11543268
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1161055704
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, NTHL1-related disorder
Health Risk
RS1169048585
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1171088713
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1177326558
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
Health Risk
RS1213514224
Conflicting classifications of pathogenicity
Health Risk
RS1226532313
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1241018958
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1245963500
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (252)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS748183280 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS748270262 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS749337739 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS749810824 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, NTHL1-deficiency tumor predisposition syndrome, Familial adenomatous polyposis 3 |
| RS750166500 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS753200685 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS753350404 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS755185485 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS756156987 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS756332498 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS756945300 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762937286 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS764393572 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS767282292 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS767591879 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS771353497 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, NTHL1-related disorder, Hereditary cancer-predisposing syndrome |
| RS772432408 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS773364076 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS774831009 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, NTHL1-related disorder, Familial adenomatous polyposis 3 |
| RS776024837 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS777263711 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS778185523 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS779229970 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS780026159 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS780886475 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS992194912 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1239874051 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS1377633383 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS1411270811 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS1596220242 | Health Risk | Likely pathogenic | — |
| RS2084236498 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2084316484 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2084387940 | Health Risk | Likely pathogenic | — |
| RS2150942179 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS2150946170 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2150946263 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2150946310 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2150946400 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2150947077 | Health Risk | Likely pathogenic | — |
| RS2150957226 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548311523 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548311703 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548311864 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548315238 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2548315270 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548316271 | Health Risk | Likely pathogenic | — |
| RS2548316384 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548331710 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2548331894 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548331971 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |