RGD:11610713 Rat Genome Database

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Variant: RGD:11610713 -  Homo sapiens

RGD ID: 11610713
RS ID: rs201483480
ClinVar ID: CV309139
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124901709  TFR2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 100,225,942
GRCh38 7 100,628,319
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007989.1:g.18232C>A
NC_000007.14:g.100628319G>T
NC_000007.13:g.100225942G>T
NM_003227.3:c.1391-13C>A
More... 		01/12/2018 intron variant benign|uncertain significance Hemochromatosis due to defect in transferrin receptor 2; Hereditary hemochromatosis type 3; TFR2-Related Hereditary Hemochromatosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TFR2
Accession:NM_003227
Location:INTRON

Gene Symbol:TFR2
Accession:NM_001206855
Location:INTRON

Gene Symbol:LOC124901709
Accession:XR_007060454
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000385211 CLINVAR
  RCV002058635 CLINVAR
dbSNP (RS) rs201483480 CLINVAR
MedGen C0392514 CLINVAR
  C1858664 CLINVAR
NCBI Gene TFR2 CLINVAR
OMIM 235200 CLINVAR
  604250 CLINVAR
  604720 CLINVAR
SNOMED CT 35400008 CLINVAR