RGD:8698072 Rat Genome Database

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Variant: RGD:8698072 -  Homo sapiens

RGD ID: 8698072
RS ID: rs113055163
ClinVar ID: CV152176
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 68,835,801
GRCh38 16 68,801,898
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_301t1:c.387+5G>A
LRG_301:g.69607G>A
NG_008021.1:g.69607G>A
NC_000016.10:g.68801898G>A
More... 		08/10/2023 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance adult 1-9 / 100 000 AllHighlyPenetrant; Cancer predisposition; CDH1-related diffuse gastric and lobular breast cancer; Hereditary Cancer Syndrome; Hereditary diffuse gastric cancer; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; 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:26123647   PMID:26467025   PMID:28492532   PMID:30311375   PMID:31642931   PMID:35264596   PMID:36436516  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000131594 CLINVAR
  RCV000227422 CLINVAR
  RCV000315259 CLINVAR
  RCV001264448 CLINVAR
  RCV003328225 CLINVAR
dbSNP (RS) rs113055163 CLINVAR
MedGen C0027672 CLINVAR
  C1708349 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN311521 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 137215 CLINVAR
  192090 CLINVAR
SNOMED CT 699346009 CLINVAR