RGD:13785611 Rat Genome Database

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Variant: RGD:13785611 -  Homo sapiens

RGD ID: 13785611
RS ID: rs1554379763
ClinVar ID: CV544498
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 117,170,950
GRCh38 7 117,530,896
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016465.4:g.70113T>C
NC_000007.14:g.117530896T>C
NC_000007.13:g.117170950T>C
LRG_663t1:c.274-3T>C
More... 		01/22/2018 intron variant 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:12439892   PMID:17662673  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000672160 CLINVAR
dbSNP (RS) rs1554379763 CLINVAR
MedGen C0010674 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR