RGD:14727179 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:14727179 -  Homo sapiens

RGD ID: 14727179
RS ID: rs756036462
ClinVar ID: CV643985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NTHL1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 2,090,161
GRCh38 16 2,040,160
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1366t1:c.764G>A
NM_001318194.2:c.434G>A
NM_001318193.2:c.593G>A
NM_002528.7:c.764G>A
More... 		10/04/2022 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; NTHL1-Related Adenomatous Polyposis and Colorectal Cancer; NTHL1-related attenuated familial adenomatous polyposis; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NTHL1
Accession:NM_001318193
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWE
PQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYDSSAPPKSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLA
MAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEETHAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQAL
CPAAQGL*

Gene Symbol:NTHL1
Accession:NM_001318194
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRARTVRKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTDDATLGKLIYPVGFWRSKVKYIKQTSAILQQ
HYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEETHAALEEWLPRELWHEI
NGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL*

Gene Symbol:NTHL1
Accession:XM_047434171
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRNKKDAPVDHLGTEHCYDSSAPPKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTDDATLGKLIYPVGF
WRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEE
THAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL*

Gene Symbol:NTHL1
Accession:NM_002528
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWE
PQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYDSSAPPKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTD
DATLGKLIYPVGFWRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGIAVDTHVHRIANR
LRWTKKATKSPEETHAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000799534 CLINVAR
  RCV001026916 CLINVAR
  RCV003467378 CLINVAR
dbSNP (RS) rs756036462 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
  C4225157 CLINVAR
NCBI Gene NTHL1 CLINVAR
OMIM 602656 CLINVAR
  616415 CLINVAR
SNOMED CT 699346009 CLINVAR