RGD:329953251 Rat Genome Database

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Variant: RGD:329953251 -  Homo sapiens

RGD ID: 329953251
ClinVar ID: CV2668160
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 68,855,801
GRCh38 16 68,821,898
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.68855801A>G
NM_004360.4:c.1712-103A>G
NM_001317186.2:c.-254-103A>G
NM_001317184.2:c.1529-103A>G
More... 		08/01/2022 intron variant uncertain significance Hereditary diffuse gastric cancer
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_004360
Location:INTRON

Gene Symbol:CDH1
Accession:NM_001317185
Location:INTRON

Gene Symbol:CDH1
Accession:NM_001317184
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:30311375   PMID:36436516  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003229709 CLINVAR
MedGen C1708349 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 137215 CLINVAR
  192090 CLINVAR