RGD:127257097 Rat Genome Database

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Variant: RGD:127257097 -  Homo sapiens

RGD ID: 127257097
RS ID: rs778197563
ClinVar ID: CV1095907
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFTR  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 117,144,299
GRCh38 7 117,504,245
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000492.4:c.54-8T>A
LRG_663:g.43462T>A
NG_016465.4:g.43462T>A
NC_000007.14:g.117504245T>A
More... 		11/09/2019 intron variant likely benign 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 RCV001426993 CLINVAR
dbSNP (RS) rs778197563 CLINVAR
MedGen C0010674 CLINVAR
NCBI Gene CFTR CLINVAR
OMIM 219700 CLINVAR
  602421 CLINVAR
SNOMED CT 190905008 CLINVAR