RGD:11634475 Rat Genome Database

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Variant: RGD:11634475 -  Homo sapiens

RGD ID: 11634475
RS ID: rs539981178
ClinVar ID: CV289810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPCAM  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 47,614,114
GRCh38 2 47,386,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_215t1:c.*362A>G
NM_002354.2:c.*362A>G
LRG_215:g.46813A>G
NG_012352.2:g.46813A>G
More... 		12/07/2021 3 prime utr variant likely benign|uncertain significance AllHighlyPenetrant; Congenital tufting enteropathy; INTESTINAL EPITHELIAL CELL DYSPLASIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EPCAM
Accession:NM_002354
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000986633 CLINVAR
  RCV002268034 CLINVAR
  RCV003932336 CLINVAR
dbSNP (RS) rs539981178 CLINVAR
MedGen C2750737 CLINVAR
  CN169374 CLINVAR
NCBI Gene EPCAM CLINVAR
OMIM 185535 CLINVAR
  613217 CLINVAR