RGD:38488471 Rat Genome Database

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Variant: RGD:38488471 -  Homo sapiens

RGD ID: 38488471
RS ID: rs2038438402
ClinVar ID: CV950841
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FTL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 49,468,598
GRCh38 19 48,965,341
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000146.4:c.-167C>T
NG_008152.1:g.5033C>T
NC_000019.10:g.48965341C>T
NC_000019.9:g.49468598C>T
More... 		03/15/2022 5 prime utr variant pathogenic BASAL GANGLIA DISEASE, ADULT-ONSET; Bonneau-Beaumont syndrome; Hereditary hyperferritinemia cataract syndrome; Hyperferritinemia cataract syndrome; HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 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:16900584   PMID:19800271   PMID:22881709   PMID:25741868   PMID:27096259   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001238029 CLINVAR
  RCV002290654 CLINVAR
dbSNP (RS) rs2038438402 CLINVAR
MedGen C1833213 CLINVAR
NCBI Gene FTL CLINVAR
OMIM 134790 CLINVAR
  600886 CLINVAR
  606159 CLINVAR