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 |
|---|---|---|---|
| RS1179131194 | Health Risk | Pathogenic | — |
| RS1184801355 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1385660445 | Health Risk | Pathogenic | — |
| RS1455020789 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS1567369247 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS1567369975 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS1596220332 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS1596220365 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1596222596 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS1596223384 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS201671098 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS2084297946 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS2084299537 | Health Risk | Pathogenic | — |
| RS2084374285 | Health Risk | Pathogenic | — |
| RS2084517687 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS2150938370 | Health Risk | Pathogenic | — |
| RS2150942322 | Health Risk | Pathogenic | — |
| RS2150942398 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS2150945390 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS2150945928 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS2150947033 | Health Risk | Pathogenic | — |
| RS2150947218 | Health Risk | Pathogenic | — |
| RS2150947238 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS2150957715 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS2537775651 | Health Risk | Pathogenic | — |
| RS2548311907 | Health Risk | Pathogenic | — |
| RS2548311973 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548311981 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548312011 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548312102 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548314985 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS2548314993 | Health Risk | Pathogenic | — |
| RS2548315004 | Health Risk | Pathogenic | — |
| RS2548315043 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2548315071 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548315153 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2548315177 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548315183 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548315200 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS2548315247 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS2548316205 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548316221 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548316235 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS2548316266 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2548316296 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2548316318 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS2548316432 | Health Risk | Pathogenic | — |
| RS2548316459 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS2548316461 | Health Risk | Pathogenic | — |
| RS2548319061 | Health Risk | Pathogenic | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |