RGD:127234914 Rat Genome Database

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Variant: RGD:127234914 -  Homo sapiens

RGD ID: 127234914
RS ID: rs1561187195
ClinVar ID: CV1072111
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TERT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 1,255,531
GRCh38 5 1,255,416
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193376.3:c.2844-5C>T
NM_198253.3:c.3033-5C>T
LRG_343:g.44632C>T
NG_009265.1:g.44632C>T
More... 		02/18/2020 intron variant likely benign 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_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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002551588 CLINVAR
dbSNP (RS) rs1561187195 CLINVAR
MedGen C3151443 CLINVAR
NCBI Gene TERT CLINVAR
OMIM 187270 CLINVAR
  613989 CLINVAR
SNOMED CT 700250006 CLINVAR