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 |
|---|---|---|---|
| RS1034291686 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, NTHL1-related disorder, Hereditary cancer-predisposing syndrome |
| RS1036098566 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1056290046 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS11543268 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1161055704 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, NTHL1-related disorder |
| RS1169048585 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1171088713 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1177326558 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS1213514224 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1226532313 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1241018958 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1245963500 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1247089981 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS1259870849 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS1285427476 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1285624591 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS1305523200 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1314362714 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1364808920 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS139165943 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS1397440217 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 3, Familial adenomatous polyposis 3 |
| RS1401228518 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1413587495 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS141903513 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS143696592 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1455998081 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS145790217 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1474892742 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS1475205147 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS147559648 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, NTHL1-related disorder, Familial adenomatous polyposis 3 |
| RS148104494 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, NTHL1-related disorder |
| RS1482983792 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS148474733 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, NTHL1-related disorder |
| RS150437839 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS1596216178 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1596219238 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1596219422 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1596220502 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1596222612 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1596223211 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1596227700 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3 |
| RS1596227962 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1805378 | Health Risk | Conflicting classifications of pathogenicity | Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, NTHL1-related disorder |
| RS199698117 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, NTHL1-related disorder, Hereditary cancer-predisposing syndrome |
| RS199771569 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200007034 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS200420874 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS202082304 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |
| RS2084236461 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2084241095 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome |