RGD:11585007 Rat Genome Database

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Variant: RGD:11585007 -  Homo sapiens

RGD ID: 11585007
RS ID: rs529360609
ClinVar ID: CV297377
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRAT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 155,670,386
GRCh38 4 154,749,234
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009110.1:g.10224C>T
NC_000004.12:g.154749234C>T
NC_000004.11:g.155670386C>T
NM_004744.3:c.*98C>T
More... 		03/23/2020 3 prime utr variant likely benign|uncertain significance Congenital retinal blindness; Leber's amaurosis; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LRAT
Accession:NM_004744
Location:3UTRS;EXON

Gene Symbol:LRAT
Accession:NM_001301645
Location:3UTRS;EXON

Gene Symbol:LRAT
Accession:XM_047416405
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000277933 CLINVAR
  RCV000333107 CLINVAR
  RCV000354005 CLINVAR
  RCV001090045 CLINVAR
dbSNP (RS) rs529360609 CLINVAR
MedGen C0035334 CLINVAR
  C0339527 CLINVAR
  C2750063 CLINVAR
  C4551714 CLINVAR
NCBI Gene LRAT CLINVAR
OMIM 204000 CLINVAR
  268000 CLINVAR
  604863 CLINVAR
  613341 CLINVAR
SNOMED CT 193413001 CLINVAR
  28835009 CLINVAR