RGD:8614214 Rat Genome Database

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Variant: RGD:8614214 -  Homo sapiens

RGD ID: 8614214
RS ID: rs397508230
ClinVar ID: CV67954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  CFTR-AS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 117,199,710
GRCh38 7 117,559,656
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.117559656G>T
NC_000007.13:g.117199710G>T
NG_016465.4:g.98873G>T
NM_000492.3:c.1584+1G>T
More... 		10/20/2020 splice donor variant|splice-5 likely pathogenic|not provided all ages|neonatal/infancy 1-5 / 10 000|1-9 / 100 000 Mucoviscidosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CFTR
Accession:NM_000492
Location:INTRON

Gene Symbol:CFTR-AS1
Accession:NR_149084
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:1695717   PMID:7691345   PMID:9725922   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001377419 CLINVAR
dbSNP (RS) rs397508230 CLINVAR
MedGen C0010674 CLINVAR
NCBI Gene CFTR CLINVAR
  CFTR-AS1 CLINVAR
OMIM 219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR