RGD:8597407 Rat Genome Database

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Variant: RGD:8597407 -  Homo sapiens

RGD ID: 8597407
RS ID: rs121908748
ClinVar ID: CV22207
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 117,230,494
GRCh38 7 117,590,440
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.117590440G>A
NC_000007.13:g.117230494G>A
NM_000492.3:c.1766+1G>A
NG_016465.4:g.129657G>A
More... 		05/20/2019 splice donor variant|splice-5 pathogenic all ages|neonatal/infancy 1-5 / 10 000|1-9 / 100 000 AllHighlyPenetrant; 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:1284540   PMID:7508414   PMID:7537147   PMID:11280952   PMID:12767731   PMID:15371902   PMID:18456578   PMID:20301428   PMID:20659818   PMID:22468138   PMID:22658665   PMID:22975760  
PMID:23276700   PMID:23974870   PMID:25741868   PMID:26467025   PMID:26708955   PMID:28492532   PMID:28544683   PMID:28603918   PMID:32429104  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007588 CLINVAR
  RCV000985681 CLINVAR
  RCV001002343 CLINVAR
  RCV001004273 CLINVAR
  RCV001027908 CLINVAR
  RCV002496300 CLINVAR
  RCV003473031 CLINVAR
dbSNP (RS) rs121908748 CLINVAR
MedGen C0010674 CLINVAR
  C2749757 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 167800 CLINVAR
  211400 CLINVAR
  219700 CLINVAR
  277180 CLINVAR
  602421 CLINVAR
OMIM Allele 602421.0064 CLINVAR
SNOMED CT 190905008 CLINVAR