RGD:8563308 Rat Genome Database

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Variant: RGD:8563308 -  Homo sapiens

RGD ID: 8563308
RS ID: rs606231203
ClinVar ID: CV27810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPCAM  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 47,602,439
GRCh38 2 47,375,300
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
LRG_215t1:c.491+1G>A
LRG_215:g.35138G>A
NG_012352.2:g.35138G>A
NC_000002.12:g.47375300G>A
More... 		07/01/2021 splice donor variant pathogenic all ages 1-9 / 100 000 Congenital tufting enteropathy; INTESTINAL EPITHELIAL CELL DYSPLASIA; Malignant tumor of stomach; Stomach cancer
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Stomach cancer  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:EPCAM
Accession:NM_002354
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18572020   PMID:23462293   PMID:36988593  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000013609 CLINVAR
  RCV003162250 CLINVAR
dbSNP (RS) rs606231203 CLINVAR
MedGen C0024623 CLINVAR
  C2750737 CLINVAR
NCBI Gene EPCAM CLINVAR
OMIM 185535 CLINVAR
  613217 CLINVAR
  613659 CLINVAR
OMIM Allele 185535.0001 CLINVAR
SNOMED CT 363349007 CLINVAR