RGD:8599139 Rat Genome Database

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Variant: RGD:8599139 -  Homo sapiens

RGD ID: 8599139
RS ID: rs199422309
ClinVar ID: CV27777
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC110806263  TERT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 1,294,885
GRCh38 5 1,294,770
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
LRG_343t1:c.219+1G>A
LRG_343:g.5278G>A
NG_009265.1:g.5278G>A
NC_000005.10:g.1294770C>T
More... 		08/12/2021 splice donor variant|splice-5 pathogenic|likely pathogenic|not provided adulthood 1-9 / 1 000 000|1-9 / 100 000 Familial idiopathic pulmonary fibrosis; Fibrocystic pulmonary dysplasia; Fibrosing alveolitis, cryptogenic; Idiopathic fibrosing alveolitis, chronic form; Idiopathic Pulmonary Fibrosis; PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TERT
Accession:NM_001193376
Location:INTRON

Gene Symbol:TERT
Accession:NM_198253
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:16199547   PMID:16247010   PMID:17392301   PMID:17460043   PMID:20301779   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000013575 CLINVAR
  RCV000032380 CLINVAR
  RCV002513017 CLINVAR
dbSNP (RS) rs199422309 CLINVAR
MedGen C3151443 CLINVAR
  C3553617 CLINVAR
  C5561926 CLINVAR
NCBI Gene 110806263 CLINVAR
  TERT CLINVAR
OMIM 178500 CLINVAR
  187270 CLINVAR
  613989 CLINVAR
  614742 CLINVAR
OMIM Allele 187270.0010 CLINVAR
SNOMED CT 700250006 CLINVAR