RGD:13805068 Rat Genome Database

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Variant: RGD:13805068 -  Homo sapiens

RGD ID: 13805068
RS ID: rs768204975
ClinVar ID: CV575002
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FTL  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 49,469,966
GRCh38 19 48,966,709
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.502G>T
NG_012923.1:g.31645C>A
NM_000146.3:c.502G>T
NC_000019.9:g.49469966G>T
More...
04/04/2018 nonsense uncertain significance 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:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSQIRQNYSTDVEAAVNSLVNLYLQASYTYLSLGFYFDRDDVALEGVSHFFRELAEEKREGYERLLKMQNQRGGRALFQ
DIKKPAEDEWGKTPDAMKAAMALEKKLNQALLDLHALGSARTDPHLCDFLETHFLDEEVKLIKKMGDHLTNLHRLGGPEA
GLGEYLF*RLTLKHD*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000685530 CLINVAR
dbSNP (RS) rs768204975 CLINVAR
MedGen C1833213 CLINVAR
NCBI Gene FTL CLINVAR
OMIM 134790 CLINVAR
  600886 CLINVAR
  606159 CLINVAR