RGD:11584349 Rat Genome Database

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Variant: RGD:11584349 -  Homo sapiens

RGD ID: 11584349
RS ID: rs61525883
ClinVar ID: CV286588
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC40A1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 190,426,315
GRCh38 2 189,561,589
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_837t1:c.*289G>T
LRG_837:g.24223G>T
NG_009027.1:g.24223G>T
NC_000002.12:g.189561589C>A
More...
01/13/2018 3 prime utr variant benign Hemochromatosis due to defect in ferroportin; Hemochromatosis, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC40A1
Accession:NM_014585
Location:3UTRS;EXON

Gene Symbol:SLC40A1
Accession:XM_047444066
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000273078 CLINVAR
dbSNP (RS) rs61525883 CLINVAR
MedGen C1853733 CLINVAR
NCBI Gene SLC40A1 CLINVAR
OMIM 604653 CLINVAR
  606069 CLINVAR