RGD:13477462 Rat Genome Database

Variant: RGD:13477462 - Homo sapiens

RGD ID:

13477462

RS ID:

rs202068193

ClinVar ID:

CV455588

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

HFE

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	6	26,093,062
GRCh38	6	26,092,834

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_000410.4:c.766G>A LRG_748t1:c.766G>A LRG_748:g.10554G>A NG_008720.2:g.10554G>A More...	10/07/2019	intron variant	uncertain significance	Alzheimer disease type 1; ALZHEIMER DISEASE, FAMILIAL, 1; ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE; Familial porphyria cutanea tarda; Hemochromatosis type 1; HFE-Associated Hereditary Hemochromatosis; Microvascular complications of diabetes 7; Microvascular complications of diabetes, susceptibility to, 7; PCT, ''FAMILIAL'' TYPE; PCT, TYPE II; PORPHYRIA CUTANEA TARDA, TYPE II; PORPHYRIA, HEPATOCUTANEOUS TYPE; Porphyria, South African type; PPOX deficiency; Protoporphyrinogen oxidase deficiency; Transferrin serum level quantitative trait locus 2; UROD DEFICIENCY; UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY

Disease Annotations Click to see Annotation Detail View

hemochromatosis (IAGP)

hemochromatosis type 1 (IAGP)

variegate porphyria (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	HFE
Accession:	NM_001406751
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	253

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQEGSESSSLPGKVTTLRCRALNYYPQNITMKWLKDK QPMDAKEFEPKDILPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIG ILFIILRKRQGSRGAMGHYVLAERE*

Gene Symbol:	HFE
Accession:	NM_139010
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLLPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDILPNG DGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMG HYVLAERE*

Gene Symbol:	HFE
Accession:	NM_139006
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	242

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPK DILPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQG SRGAMGHYVLAERE*

Gene Symbol:	HFE
Accession:	NM_139007
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	168

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLQSHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLE WERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDA KEFEPKDILPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFII LRKRQGSRGAMGHYVLAERE*

Gene Symbol:	HFE
Accession:	NM_139003
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	150

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDILPNGDGTYQG WITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAE RE*

Gene Symbol:	HFE
Accession:	NM_139004
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFE PKDILPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKR QGSRGAMGHYVLAERE*

Gene Symbol:	HFE
Accession:	NM_001406752
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	168

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLQSHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLE WERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDA KEFEPKDILPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFII LRKRQGSSF*

Gene Symbol:	HFE
Accession:	NM_000410
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	256

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL KDKQPMDAKEFEPKDILPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL FIGILFIILRKRQGSRGAMGHYVLAERE*

Gene Symbol:	HFE
Accession:	NM_001384164
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	256

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL KDKQPMDAKEFEPKDILPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL FIGILFIILRKRQGSRGAMGHYVLAERF*

Gene Symbol:	HFE
Accession:	NM_139008
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	154

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLQSHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLE WERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDILPNGDG TYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHY VLAERE*

Gene Symbol:	HFE
Accession:	NM_001300749
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	256

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL KDKQPMDAKEFEPKDILPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL FIGILFIILRKRQGSSF*

Gene Symbol:	HFE
Accession:	NM_139009
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	233

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLPLGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFW TIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYL ERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDILPNGDGT YQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYV LAERE*

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

Gene Symbol:	HFE
Accession:	NM_139011
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:21411349	PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000549604	CLINVAR
	RCV002490999	CLINVAR
	RCV003126811	CLINVAR
dbSNP (RS)	rs202068193	CLINVAR
MedGen	C0162532	CLINVAR
	C0392514	CLINVAR
	C3469186	CLINVAR
NCBI Gene	HFE	CLINVAR
OMIM	104300	CLINVAR
	176100	CLINVAR
	176200	CLINVAR
	235200	CLINVAR
	612635	CLINVAR
	613609	CLINVAR
	614193	CLINVAR
SNOMED CT	35400008	CLINVAR
	58275005	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:13477462 - Homo sapiens

Imported Disease Annotations - ClinVar