RGD:12835677 Rat Genome Database

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Variant: RGD:12835677 -  Homo sapiens

RGD ID: 12835677
RS ID: rs774761552
ClinVar ID: CV377647
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 68,772,192
GRCh38 16 68,738,289
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
NM_001317185.2:c.-1567-8C>T
NM_001317186.2:c.-1771-8C>T
NM_001317184.2:c.49-8C>T
NM_004360.5:c.49-8C>T
More... 		08/20/2019 intron variant 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:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000422103 CLINVAR
  RCV000776443 CLINVAR
  RCV000991077 CLINVAR
  RCV001712389 CLINVAR
  RCV003328338 CLINVAR
dbSNP (RS) rs774761552 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