RGD:13496813 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:13496813 -  Homo sapiens

RGD ID: 13496813
RS ID: rs143662783
ClinVar ID: CV455484
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HFE  HFE-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 26,087,718
GRCh38 6 26,087,490
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000410.3:c.50C>T
NM_139008.3:c.50C>T
NM_139009.3:c.50C>T
NM_139010.3:c.50C>T
More... 		02/08/2023 missense variant likely benign|uncertain significance HFE-Associated Hereditary Hemochromatosis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HFE
Accession:NM_139011
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLQPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE*

Gene Symbol:HFE
Accession:NM_001300749
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP
RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL
KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL
FIGILFIILRKRQGSSF*

Gene Symbol:HFE
Accession:NM_001406751
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP
RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQEGSESSSLPGKVTTLRCRALNYYPQNITMKWLKDK
QPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIG
ILFIILRKRQGSRGAMGHYVLAERE*

Gene Symbol:HFE
Accession:NM_001384164
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP
RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL
KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL
FIGILFIILRKRQGSRGAMGHYVLAERF*

Gene Symbol:HFE
Accession:NM_139007
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLQSHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLE
WERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDA
KEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFII
LRKRQGSRGAMGHYVLAERE*

Gene Symbol:HFE
Accession:NM_139006
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP
RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPK
DVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQG
SRGAMGHYVLAERE*

Gene Symbol:HFE
Accession:NM_139003
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQG
WITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAE
RE*

Gene Symbol:HFE
Accession:NM_139004
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFE
PKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKR
QGSRGAMGHYVLAERE*

Gene Symbol:HFE
Accession:NM_139008
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLQSHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLE
WERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDG
TYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHY
VLAERE*

Gene Symbol:HFE
Accession:NM_139009
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLPLGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFW
TIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYL
ERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGT
YQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYV
LAERE*

Gene Symbol:HFE
Accession:NM_001406752
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLQSHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLE
WERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDA
KEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFII
LRKRQGSSF*

Gene Symbol:HFE
Accession:NM_000410
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP
RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL
KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL
FIGILFIILRKRQGSRGAMGHYVLAERE*

Gene Symbol:HFE
Accession:NM_139010
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQIAVLQGRLLLPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNG
DGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMG
HYVLAERE*

Gene Symbol:HFE
Accession:XR_241893
Location:EXON;NON-CODING

Gene Symbol:HFE-AS1
Accession:NR_144383
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26151776   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000538099 CLINVAR
  RCV000998545 CLINVAR
  RCV001157772 CLINVAR
dbSNP (RS) rs143662783 CLINVAR
MedGen C0392514 CLINVAR
  C3469186 CLINVAR
  C3661900 CLINVAR
NCBI Gene 108783645 CLINVAR
  HFE CLINVAR
OMIM 235200 CLINVAR
  613609 CLINVAR
SNOMED CT 35400008 CLINVAR