RGD:21072882 Rat Genome Database

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Variant: RGD:21072882 -  Homo sapiens

RGD ID: 21072882
RS ID: rs374676556
ClinVar ID: CV791637
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 68,847,172
GRCh38 16 68,813,269
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001317185.2:c.-478-44G>A
NM_001317186.2:c.-682-44G>A
NM_001317184.2:c.1137+1006G>A
NM_004360.5:c.1138-44G>A
More... 		03/04/2022 intron variant likely benign AllHighlyPenetrant; 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_001317185
Location:5UTRS;INTRON

Gene Symbol:CDH1
Accession:NM_001317184
Location:INTRON

Gene Symbol:CDH1
Accession:NM_004360
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000989623 CLINVAR
  RCV002268395 CLINVAR
dbSNP (RS) rs374676556 CLINVAR
MedGen C1708349 CLINVAR
  CN169374 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 137215 CLINVAR
  192090 CLINVAR