RGD:13497947 Rat Genome Database

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Variant: RGD:13497947 -  Homo sapiens

RGD ID: 13497947
RS ID: rs139729994
ClinVar ID: CV456650
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 117,254,767
GRCh38 7 117,614,713
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016465.4:g.153930G>T
NC_000007.14:g.117614713G>T
NC_000007.13:g.117254767G>T
NP_000483.3:p.Leu1156Phe
More... 		12/31/2019 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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:25492507   PMID:25741868   PMID:26089335   PMID:28492532   PMID:30992994   PMID:34931337  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000538933 CLINVAR
  RCV001163786 CLINVAR
  RCV002509422 CLINVAR
  RCV003144315 CLINVAR
dbSNP (RS) rs139729994 CLINVAR
MedGen C0010674 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR