RGD:8600200 Rat Genome Database

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Variant: RGD:8600200 -  Homo sapiens

RGD ID: 8600200
RS ID: rs398124638
ClinVar ID: CV31521
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FTL  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 49,468,616
GRCh38 19 48,965,359
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008152.1:g.5051G>C
NC_000019.10:g.48965359G>C
NC_000019.9:g.49468616G>C
NM_000146.3:c.-149G>C
More... 		10/23/2021 5 prime utr variant|utr-5 pathogenic|likely pathogenic all ages|variable <1 / 1 000 000 BASAL GANGLIA DISEASE, ADULT-ONSET; Bonneau-Beaumont syndrome; Hereditary hyperferritinemia cataract syndrome; Hyperferritinemia cataract syndrome; HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; L-ferritin deficiency; L-FERRITIN DEFICIENCY, AUTOSOMAL DOMINANT; Neurodegeneration with brain iron accumulation 3; Neuroferritinopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FTL
Accession:NM_000146
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:10759702   PMID:23300176   PMID:23421845   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017946 CLINVAR
  RCV002482883 CLINVAR
  RCV003764586 CLINVAR
dbSNP (RS) rs398124638 CLINVAR
MedGen C1833213 CLINVAR
NCBI Gene FTL CLINVAR
OMIM 134790 CLINVAR
  600886 CLINVAR
  606159 CLINVAR
  615604 CLINVAR
OMIM Allele 134790.0009 CLINVAR