RGD:405112924 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:405112924 -  Homo sapiens

RGD ID: 405112924
ClinVar ID: CV2984833
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HFE  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 26,091,306
GRCh38 6 26,091,078
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_748t1:c.314T>G
NM_139009.3:c.245T>G
NM_000410.4:c.314T>G
NM_001300749.3:c.314T>G
More...
12/10/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003751882 CLINVAR
MedGen C0392514 CLINVAR
NCBI Gene HFE CLINVAR
OMIM 235200 CLINVAR
  613609 CLINVAR
SNOMED CT 35400008 CLINVAR