RGD:8612013 Rat Genome Database

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Variant: RGD:8612013 -  Homo sapiens

RGD ID: 8612013
RS ID: rs181008242
ClinVar ID: CV65697
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC111674463  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 117,119,337
GRCh38 7 117,479,283
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.117479283T>G
NG_016465.4:g.18500T>G
LRG_663t1:c.-812T>G
NM_000492.4:c.-812T>G
More... 		07/01/2022 2kb upstream variant|neargene-5|upstream transcript variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided all ages|neonatal/infancy 1-5 / 10 000|1-9 / 100 000 AllHighlyPenetrant; Mucoviscidosis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:7540587   PMID:18703788   PMID:22504961   PMID:23470247   PMID:25741868   PMID:25797027   PMID:26467025   PMID:26847993   PMID:28492532   PMID:30296588  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000043698 CLINVAR
  RCV000507401 CLINVAR
  RCV001281708 CLINVAR
dbSNP (RS) rs181008242 CLINVAR
MedGen C0010674 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene 111674463 CLINVAR
  CFTR CLINVAR
OMIM 219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR