RGD:8614264 Rat Genome Database

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Variant: RGD:8614264 -  Homo sapiens

RGD ID: 8614264
RS ID: rs397508265
ClinVar ID: CV68005
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 117,230,381
GRCh38 7 117,590,327
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.117590327T>C
NC_000007.13:g.117230381T>C
NG_016465.4:g.129544T>C
NM_000492.4:c.1680-26T>C
More... 		01/19/2021 intron|intron variant likely benign|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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000669843 CLINVAR
dbSNP (RS) rs397508265 CLINVAR
MedGen C0010674 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR