RGD:405205127 Rat Genome Database

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Variant: RGD:405205127 -  Homo sapiens

RGD ID: 405205127
ClinVar ID: CV3117038
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HFE  HFE-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 26,091,191
GRCh38 6 26,090,963
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.26090963C>T
NC_000006.11:g.26091191C>T
NR_144383.1:n.72G>A
NM_000410.3:c.199C>T
More... 		09/21/2023 intron variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:21228038   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003822522 CLINVAR
MedGen C0392514 CLINVAR
NCBI Gene HFE CLINVAR
  HFE-AS1 CLINVAR
OMIM 235200 CLINVAR
  613609 CLINVAR
SNOMED CT 35400008 CLINVAR