RGD:126753072 Rat Genome Database

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Variant: RGD:126753072 -  Homo sapiens

RGD ID: 126753072
RS ID: rs2031400986
ClinVar ID: CV1003572
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC40A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 190,444,608
GRCh38 2 189,579,882
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014585.6:c.44-2A>G
LRG_837:g.5930A>G
NG_009027.1:g.5930A>G
NC_000002.12:g.189579882T>C
More... 		08/30/2020 splice acceptor variant uncertain significance 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:INTRON

Gene Symbol:SLC40A1
Accession:XM_047444066
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001316420 CLINVAR
dbSNP (RS) rs2031400986 CLINVAR
MedGen C1853733 CLINVAR
NCBI Gene SLC40A1 CLINVAR
OMIM 604653 CLINVAR
  606069 CLINVAR