RGD:13511366 Rat Genome Database

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Variant: RGD:13511366 -  Homo sapiens

RGD ID: 13511366
RS ID: rs1555516202
ClinVar ID: CV484931
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  
Reference Nucleotide: A
Variant Nucleotide: G
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>G
LRG_301:g.83471A>G
NG_008021.1:g.83471A>G
NC_000016.10:g.68815762A>G
More... 		05/10/2019 intron variant likely benign|uncertain significance 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_001317186
Location:5UTRS;INTRON

Gene Symbol:CDH1
Accession:NM_004360
Location:INTRON

Gene Symbol:CDH1
Accession:NM_001317184
Location:INTRON

Gene Symbol:CDH1
Accession:NM_001317185
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000582101 CLINVAR
  RCV001224073 CLINVAR
dbSNP (RS) rs1555516202 CLINVAR
MedGen C0027672 CLINVAR
  C1708349 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 137215 CLINVAR
  192090 CLINVAR
SNOMED CT 699346009 CLINVAR