RGD:405106501 Rat Genome Database

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Variant: RGD:405106501 -  Homo sapiens

RGD ID: 405106501
ClinVar ID: CV3044471
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HFE  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 26,091,525
GRCh38 6 26,091,297
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.11:g.26091525G>C
NM_139009.3:c.272-17G>C
NM_139003.3:c.340+193G>C
NM_139004.3:c.340+193G>C
More... 		08/18/2023 intron variant likely benign
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 RCV003750534 CLINVAR
MedGen C0392514 CLINVAR
NCBI Gene HFE CLINVAR
OMIM 235200 CLINVAR
  613609 CLINVAR
SNOMED CT 35400008 CLINVAR