RGD:13791603 Rat Genome Database

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Variant: RGD:13791603 -  Homo sapiens

RGD ID: 13791603
RS ID: rs778457306
ClinVar ID: CV544164
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  LOC111674475  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 117,227,774
GRCh38 7 117,587,720
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000492.3:c.1585-19T>C
NG_016465.4:g.126937T>C
NC_000007.14:g.117587720T>C
NC_000007.13:g.117227774T>C
More... 		10/06/2020 intron variant conflicting interpretations of pathogenicity|uncertain significance 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000667656 CLINVAR
dbSNP (RS) rs778457306 CLINVAR
MedGen C0010674 CLINVAR
NCBI Gene 111674475 CLINVAR
  CFTR CLINVAR
OMIM 219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR