RGD:25321163 Rat Genome Database

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Variant: RGD:25321163 -  Homo sapiens

RGD ID: 25321163
RS ID: rs1584821306
ClinVar ID: CV806352
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  LOC111674472  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 117,250,260
GRCh38 7 117,610,206
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_663t1:c.2989-313A>T
NM_000492.4:c.2989-313A>T
LRG_663:g.149423A>T
NG_016465.4:g.149423A>T
More... 		04/10/2023 intron variant pathogenic CFTR-related disorders; 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:11379874   PMID:25741868   PMID:28492532   PMID:28603918   PMID:30389601  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001009397 CLINVAR
  RCV001860603 CLINVAR
dbSNP (RS) rs1584821306 CLINVAR
MedGen C0010674 CLINVAR
NCBI Gene 111674472 CLINVAR
  CFTR CLINVAR
OMIM 219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR