RGD:152119622 Rat Genome Database

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Variant: RGD:152119622 -  Homo sapiens

RGD ID: 152119622
RS ID: rs1406580034
ClinVar ID: CV1579169
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 68,857,286
GRCh38 16 68,823,383
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.-29-16T>G
NM_001317184.2:c.1754-16T>G
NM_004360.5:c.1937-16T>G
NM_001317185.2:c.389-16T>G
More... 		11/05/2021 intron variant likely benign 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002081371 CLINVAR
dbSNP (RS) rs1406580034 CLINVAR
MedGen C1708349 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 137215 CLINVAR
  192090 CLINVAR