RGD:8614808 Rat Genome Database

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Variant: RGD:8614808 -  Homo sapiens

RGD ID: 8614808
RS ID: rs372227120
ClinVar ID: CV68596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 117,305,619
GRCh38 7 117,665,565
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
NG_016465.4:g.204782G>A
NC_000007.14:g.117665565G>A
NC_000007.13:g.117305619G>A
NM_000492.4:c.4242+1G>A
More... 		10/29/2021 splice donor variant|splice-5 pathogenic|not provided all ages|neonatal/infancy 1-5 / 10 000|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
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:1379210   PMID:7682196   PMID:9536098   PMID:15074370   PMID:17576681   PMID:20059485   PMID:23974870   PMID:25525159   PMID:25741868   PMID:26098992   PMID:28492532   PMID:28603918  
PMID:29504914   PMID:31245908  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000576317 CLINVAR
  RCV001826684 CLINVAR
  RCV002504944 CLINVAR
dbSNP (RS) rs372227120 CLINVAR
MedGen C0010674 CLINVAR
  C2749757 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 167800 CLINVAR
  211400 CLINVAR
  219700 CLINVAR
  277180 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR