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 |
|---|---|---|---|
| RS2548319118 | Health Risk | Pathogenic | — |
| RS2548319297 | Health Risk | Pathogenic | — |
| RS2548319413 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548319666 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548319715 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548320418 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS2548320449 | Health Risk | Pathogenic | — |
| RS2548320617 | Health Risk | Pathogenic | — |
| RS2548320697 | Health Risk | Pathogenic | — |
| RS2548321081 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548321272 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548321541 | Health Risk | Pathogenic | — |
| RS2548321575 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS2548331721 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548331747 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548331798 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548331844 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS2548332224 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548332320 | Health Risk | Pathogenic | — |
| RS370913375 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS371328106 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS372698989 | Health Risk | Pathogenic | — |
| RS759955745 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS765168342 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS879181418 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS895744368 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS1173366565 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS1176002553 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS1192158230 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS1198246754 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS1290880136 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS1314290585 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS1411394625 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS146347092 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, NTHL1-related disorder |
| RS1555492819 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS1596220478 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS2084241184 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2084241437 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2084372140 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS2150938327 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2150938411 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS2150941243 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548320872 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS372946560 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS374489979 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS745671590 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, NTHL1-deficiency tumor predisposition syndrome |
| RS749908882 | Health Risk | Pathogenic/Likely pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS753029097 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS758667255 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS763525759 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |