RGD:152069194 Rat Genome Database

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Variant: RGD:152069194 -  Homo sapiens

RGD ID: 152069194
RS ID: rs201666949
ClinVar ID: CV1589157
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HFE  HFE-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 26,087,755
GRCh38 6 26,087,527
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001384164.1:c.76+11G>A
NM_139003.3:c.76+11G>A
NM_139004.3:c.76+11G>A
NM_139006.3:c.76+11G>A
More... 		10/02/2021 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:HFE
Accession:NM_139006
Location:INTRON

Gene Symbol:HFE
Accession:NM_000410
Location:INTRON

Gene Symbol:HFE
Accession:NM_139008
Location:INTRON

Gene Symbol:HFE
Accession:NM_139003
Location:INTRON

Gene Symbol:HFE
Accession:NM_139009
Location:INTRON

Gene Symbol:HFE
Accession:NM_139007
Location:INTRON

Gene Symbol:HFE
Accession:NM_001384164
Location:INTRON

Gene Symbol:HFE
Accession:NM_139004
Location:INTRON

Gene Symbol:HFE
Accession:NM_139011
Location:INTRON

Gene Symbol:HFE
Accession:NM_001406751
Location:INTRON

Gene Symbol:HFE
Accession:NM_139010
Location:INTRON

Gene Symbol:HFE
Accession:NM_001300749
Location:INTRON

Gene Symbol:HFE
Accession:NM_001406752
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002209757 CLINVAR
dbSNP (RS) rs201666949 CLINVAR
MedGen C0392514 CLINVAR
NCBI Gene HFE CLINVAR
  HFE-AS1 CLINVAR
OMIM 235200 CLINVAR
  613609 CLINVAR
SNOMED CT 35400008 CLINVAR