RGD:10768511 Rat Genome Database

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Variant: RGD:10768511 -  Homo sapiens

RGD ID: 10768511
RS ID: rs864622089
ClinVar ID: CV221199
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPCAM  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 47,607,016
GRCh38 2 47,379,877
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002354.3:c.766G>T
NP_002345.2:p.Ala256Ser
LRG_215p1:p.Ala256Ser
NP_002345.2:p.Ala256Ser
More... 		07/06/2015 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EPCAM
Accession:NM_002354
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 256
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPPQVLAFGLLLAAATATFAAAQEECVCENYKLAVNCFVNNNRQCQCTSVGAQNTVICSKLAAKCLVMKAEMNGSKLGR
RAKPEGALQNNDGLYDPDCDESGLFKAKQCNGTSMCWCVNTAGVRRTDKDTEITCSERVRTYWIIIELKHKAREKPYDSK
SLRTALQKEITTRYQLDPKFITSILYENNVITIDLVQNSSQKTQNDVDIADVAYYFEKDVKGESLFHSKKMDLTVNGEQL
DLDPGQTLIYYVDEKSPEFSMQGLKAGVIAVIVVVVIAVVAGIVVLVISRKKRMAKYEKAEIKEMGEMHRELNA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001324335 CLINVAR
  RCV002399759 CLINVAR
dbSNP (RS) rs864622089 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
NCBI Gene EPCAM CLINVAR
OMIM 185535 CLINVAR
SNOMED CT 699346009 CLINVAR