RGD:12889022 Rat Genome Database

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Variant: RGD:12889022 -  Homo sapiens

RGD ID: 12889022
RS ID: rs766415474
ClinVar ID: CV395038
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TERT  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 1,268,628
GRCh38 5 1,268,513
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
NM_198253.2:c.2582+7C>A
LRG_343t1:c.2582+7C>A
LRG_343:g.31535C>A
NG_009265.1:g.31535C>A
More... 		11/23/2020 intron variant likely benign|uncertain significance adult 1-9 / 100 000 AllHighlyPenetrant; Idiopathic fibrosing alveolitis, chronic form; Idiopathic Pulmonary Fibrosis
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TERT
Accession:NM_198253
Location:INTRON

Gene Symbol:TERT
Accession:NM_001193376
Location:INTRON

Gene Symbol:TERT
Accession:NR_149163
Location:INTRON;NON-CODING

Gene Symbol:TERT
Accession:NR_149162
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000502594 CLINVAR
  RCV002526495 CLINVAR
  RCV003942567 CLINVAR
dbSNP (RS) rs766415474 CLINVAR
MedGen C3151443 CLINVAR
  CN169374 CLINVAR
NCBI Gene TERT CLINVAR
OMIM 187270 CLINVAR
  613989 CLINVAR
SNOMED CT 700250006 CLINVAR