RGD:8614746 Rat Genome Database

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Variant: RGD:8614746 -  Homo sapiens

RGD ID: 8614746
RS ID: rs397508650
ClinVar ID: CV68529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 117,292,987
GRCh38 7 117,652,933
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.117652933T>A
NC_000007.13:g.117292987T>A
NG_016465.4:g.192150T>A
NM_000492.4:c.3963+2T>A
More... 		01/29/2018 splice donor variant|splice-5 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

Variant Samples
Additional References at PubMed
PMID:17331079   PMID:28603918  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000577173 CLINVAR
dbSNP (RS) rs397508650 CLINVAR
MedGen C0010674 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR