RGD:152157577 Rat Genome Database

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Variant: RGD:152157577 -  Homo sapiens

RGD ID: 152157577
RS ID: rs1205608152
ClinVar ID: CV1629905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HFE  HFE-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 26,091,128
GRCh38 6 26,090,900
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000410.4:c.136T>C
NM_001384164.1:c.136T>C
NM_139003.3:c.136T>C
NM_139004.3:c.136T>C
More... 		08/31/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HFE
Accession:NM_000410
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP
RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL
KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL
FIGILFIILRKRQGSRGAMGHYVLAERE*

Gene Symbol:HFE
Accession:NM_139006
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP
RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPK
DVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQG
SRGAMGHYVLAERE*

Gene Symbol:HFE
Accession:NM_139004
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFE
PKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKR
QGSRGAMGHYVLAERE*

Gene Symbol:HFE
Accession:NM_139003
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQG
WITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAE
RE*

Gene Symbol:HFE
Accession:NM_001300749
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP
RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL
KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL
FIGILFIILRKRQGSSF*

Gene Symbol:HFE
Accession:NM_001384164
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP
RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL
KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVIL
FIGILFIILRKRQGSRGAMGHYVLAERF*

Gene Symbol:HFE
Accession:NM_001406751
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRIS
SQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEP
RAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQEGSESSSLPGKVTTLRCRALNYYPQNITMKWLKDK
QPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIG
ILFIILRKRQGSRGAMGHYVLAERE*

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

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

Gene Symbol:HFE
Accession:NM_139009
Location:INTRON

Gene Symbol:HFE
Accession:NM_139007
Location:INTRON

Gene Symbol:HFE
Accession:NM_139008
Location:INTRON

Gene Symbol:HFE
Accession:NM_139010
Location:INTRON

Gene Symbol:HFE
Accession:NM_139011
Location:INTRON

Gene Symbol:HFE
Accession:NM_001406752
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002202859 CLINVAR
dbSNP (RS) rs1205608152 CLINVAR
MedGen C0392514 CLINVAR
NCBI Gene HFE CLINVAR
  HFE-AS1 CLINVAR
OMIM 235200 CLINVAR
  613609 CLINVAR
SNOMED CT 35400008 CLINVAR