RGD:8597455 Rat Genome Database

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Variant: RGD:8597455 -  Homo sapiens

RGD ID: 8597455
RS ID: rs75096551
ClinVar ID: CV33858
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 117,246,808
GRCh38 7 117,606,754
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.117606754G>A
NC_000007.13:g.117246808G>A
NG_016465.1:g.131792G>A
c.2988+1G>A
More... 		05/29/2020 splice donor variant|splice-5 pathogenic adolescent|all ages|neonatal/infancy 1-5 / 10 000|1-9 / 1 000 000|1-9 / 100 000 Congenital bilateral aplasia of vas deferens from CFTR mutation; Cystic fibrosis; Cystic Fibrosis-Like Syndrome; Hereditary chronic pancreatitis; Hereditary pancreatitis; 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:1695717   PMID:7472820   PMID:7691345   PMID:8880589   PMID:9150159   PMID:9683582   PMID:9725922   PMID:9950364   PMID:11280952   PMID:11924117   PMID:15371902   PMID:16199547  
PMID:16499810   PMID:18456578   PMID:20301428   PMID:21520337   PMID:22658665   PMID:22975760   PMID:23206872   PMID:23974870   PMID:25066652   PMID:25087612   PMID:25741868   PMID:26467025  
PMID:28492532   PMID:28603918   PMID:29261177   PMID:30606298   PMID:31036917   PMID:31589614   PMID:32429104   PMID:32662942   PMID:34134972  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007645 CLINVAR
  RCV000759761 CLINVAR
  RCV000763580 CLINVAR
  RCV001004285 CLINVAR
  RCV001027899 CLINVAR
  RCV003415675 CLINVAR
  RCV003473046 CLINVAR
dbSNP (RS) rs75096551 CLINVAR
MedGen C0010674 CLINVAR
  C2749757 CLINVAR
  C3661900 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 167800 CLINVAR
  211400 CLINVAR
  219700 CLINVAR
  277180 CLINVAR
  602421 CLINVAR
OMIM Allele 602421.0120 CLINVAR
SNOMED CT 190905008 CLINVAR