RGD:8614641 Rat Genome Database

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Variant: RGD:8614641 -  Homo sapiens

RGD ID: 8614641
RS ID: rs139729994
ClinVar ID: CV68418
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: G
Variant Nucleotide: A
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 Age of Onset Prevalence Trait Synonyms
NC_000007.14:g.117614713G>A
NC_000007.13:g.117254767G>A
NP_000483.3:p.Leu1156=
NG_016465.4:g.153930G>A
More... 		04/11/2020 synonymous variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided all ages|neonatal/infancy 1-5 / 10 000|1-9 / 100 000 CFTR-related disorders; Cystic Fibrosis-Like Syndrome; 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:9067754   PMID:9536098   PMID:10923036   PMID:17576681   PMID:19339519   PMID:23974870   PMID:24243928   PMID:25741868   PMID:26199320   PMID:28492532   PMID:28603918  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000046899 CLINVAR
  RCV000428306 CLINVAR
  RCV000624739 CLINVAR
  RCV001009370 CLINVAR
  RCV001826667 CLINVAR
  RCV003474580 CLINVAR
dbSNP (RS) rs139729994 CLINVAR
MedGen C0010674 CLINVAR
  C0950123 CLINVAR
  C2749757 CLINVAR
  C3661900 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 211400 CLINVAR
  219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR