RGD:13706919 Rat Genome Database

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Variant: RGD:13706919 -  Homo sapiens

RGD ID: 13706919
RS ID: rs752733398
ClinVar ID: CV539347
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 68,847,201
GRCh38 16 68,813,298
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.9:g.68847201C>G
LRG_301:g.81007C>G
NG_008021.1:g.81007C>G
NC_000016.10:g.68813298C>G
More... 		03/03/2023 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary diffuse gastric cancer; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDH1
Accession:NM_001317186
Location:5UTRS;INTRON

Gene Symbol:CDH1
Accession:NM_001317185
Location:5UTRS;INTRON

Gene Symbol:CDH1
Accession:NM_004360
Location:INTRON

Gene Symbol:CDH1
Accession:NM_001317184
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000663102 CLINVAR
  RCV001187080 CLINVAR
dbSNP (RS) rs752733398 CLINVAR
MedGen C0027672 CLINVAR
  C1708349 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 137215 CLINVAR
  192090 CLINVAR
SNOMED CT 699346009 CLINVAR