RGD:11348933 Rat Genome Database

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Variant: RGD:11348933 -  Homo sapiens

RGD ID: 11348933
RS ID: rs768723264
ClinVar ID: CV238797
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPCAM  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 47,606,902
GRCh38 2 47,379,763
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_215t1:c.658-6A>G
LRG_215:g.39601A>G
NG_012352.2:g.39601A>G
NC_000002.12:g.47379763A>G
More... 		01/29/2016 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
Lynch syndrome  (IAGP)


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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000228632 CLINVAR
dbSNP (RS) rs768723264 CLINVAR
MedGen C4552100 CLINVAR
NCBI Gene EPCAM CLINVAR
OMIM 185535 CLINVAR