RGD:21072881 Rat Genome Database

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Variant: RGD:21072881 -  Homo sapiens

RGD ID: 21072881
RS ID: rs1597894632
ClinVar ID: CV791636
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 68,846,037
GRCh38 16 68,812,134
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004360.3:c.1009-1G>C
NM_001317184.2:c.1009-1G>C
NM_004360.5:c.1009-1G>C
NC_000016.9:g.68846037G>C
More... 		05/28/2019 splice acceptor variant likely pathogenic Cancer predisposition; Hereditary Cancer Syndrome; Hereditary diffuse gastric cancer; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDH1
Accession:NM_001317185
Location:5UTRS;INTRON

Gene Symbol:CDH1
Accession:NM_001317186
Location:5UTRS;INTRON

Gene Symbol:CDH1
Accession:NM_001317184
Location:INTRON

Gene Symbol:CDH1
Accession:NM_004360
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000989622 CLINVAR
  RCV001009684 CLINVAR
dbSNP (RS) rs1597894632 CLINVAR
MedGen C0027672 CLINVAR
  C1708349 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 137215 CLINVAR
  192090 CLINVAR
SNOMED CT 699346009 CLINVAR