RGD:11583337 Rat Genome Database

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Variant: RGD:11583337 -  Homo sapiens

RGD ID: 11583337
RS ID: rs201393458
ClinVar ID: CV290011
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPAS1  LOC126806210  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 46,588,237
GRCh38 2 46,361,098
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016000.1:g.68697G>T
NC_000002.12:g.46361098G>T
NC_000002.11:g.46588237G>T
NM_001430.5:c.779+8G>T
More... 		01/29/2024 intron variant benign|likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EPAS1
Accession:XM_011532698
Location:INTRON

Gene Symbol:EPAS1
Accession:NM_001430
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000265795 CLINVAR
  RCV003418054 CLINVAR
dbSNP (RS) rs201393458 CLINVAR
MedGen C2673187 CLINVAR
  C3661900 CLINVAR
NCBI Gene EPAS1 CLINVAR
  LOC126806210 CLINVAR
OMIM 603349 CLINVAR
  611783 CLINVAR