RGD:8602757 Rat Genome Database

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Variant: RGD:8602757 -  Homo sapiens

RGD ID: 8602757
RS ID: rs193922517
ClinVar ID: CV44527
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  LOC111674472  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 117,250,731
GRCh38 7 117,610,677
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
NC_000007.14:g.117610677A>G
NC_000007.13:g.117250731A>G
NG_016465.4:g.149894A>G
NM_000492.4:c.3139+8A>G
More... 		07/17/2020 intron|intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance all ages|neonatal/infancy 1-5 / 10 000|1-9 / 100 000 Mucoviscidosis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CFTR
Accession:NM_000492
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15858154   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000029518 CLINVAR
  RCV003114205 CLINVAR
  RCV003894821 CLINVAR
dbSNP (RS) rs193922517 CLINVAR
MedGen C0010674 CLINVAR
  C3661900 CLINVAR
NCBI Gene 111674472 CLINVAR
  CFTR CLINVAR
OMIM 219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR