RGD:13821657 Rat Genome Database

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Variant: RGD:13821657 -  Homo sapiens

RGD ID: 13821657
RS ID: rs777102890
ClinVar ID: CV560001
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TERT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 1,279,401
GRCh38 5 1,279,286
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_343t1:c.2130+5G>A
LRG_343:g.20762G>A
NG_009265.1:g.20762G>A
NC_000005.10:g.1279286C>T
More... 		04/18/2018 intron variant uncertain significance 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:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002225114 CLINVAR
  RCV002533436 CLINVAR
dbSNP (RS) rs777102890 CLINVAR
MedGen C0265965 CLINVAR
  C3151443 CLINVAR
NCBI Gene TERT CLINVAR
OMIM 187270 CLINVAR
  613989 CLINVAR
SNOMED CT 700250006 CLINVAR
  74911008 CLINVAR