RGD:8614457 Rat Genome Database

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Variant: RGD:8614457 -  Homo sapiens

RGD ID: 8614457
RS ID: rs397508426
ClinVar ID: CV68224
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 117,170,951
GRCh38 7 117,530,897
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.117530897A>G
NC_000007.13:g.117170951A>G
NG_016465.4:g.70114A>G
LRG_663:g.70114A>G
More... 		04/04/2018 splice acceptor variant|splice-3 pathogenic|not provided all ages|neonatal/infancy 1-5 / 10 000|1-9 / 100 000 Cystic Fibrosis-Like Syndrome; 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:1695717   PMID:7691345   PMID:9429141   PMID:9725922   PMID:16199547   PMID:23420618   PMID:23974870   PMID:25741868   PMID:28492532   PMID:28603918  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000577517 CLINVAR
  RCV001831755 CLINVAR
  RCV003474551 CLINVAR
dbSNP (RS) rs397508426 CLINVAR
MedGen C0010674 CLINVAR
  C2749757 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 211400 CLINVAR
  219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR