RGD:156356830 Rat Genome Database

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Variant: RGD:156356830 -  Homo sapiens

RGD ID: 156356830
ClinVar ID: CV1927018
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 68,849,665
GRCh38 16 68,815,762
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001317186.2:c.-255+3A>C
NM_001317184.2:c.1382+3A>C
NM_004360.5:c.1565+3A>C
NM_001317185.2:c.17+3A>C
More... 		03/11/2022 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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002651346 CLINVAR
MedGen C1708349 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 137215 CLINVAR
  192090 CLINVAR