RGD:11345670 Rat Genome Database

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Variant: RGD:11345670 -  Homo sapiens

RGD ID: 11345670
RS ID: rs564350060
ClinVar ID: CV242447
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  LOC130059290  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 68,771,270
GRCh38 16 68,737,367
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_301:g.5076G>T
NG_008021.1:g.5076G>T
NC_000016.10:g.68737367G>T
NC_000016.9:g.68771270G>T
More... 		07/30/2022 5 prime utr variant benign|likely benign adult 1-9 / 100 000 AllHighlyPenetrant; Hereditary diffuse gastric cancer
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDH1
Accession:NM_001317184
Location:5UTRS;EXON

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

Gene Symbol:CDH1
Accession:NM_004360
Location:5UTRS;EXON

Gene Symbol:CDH1
Accession:NM_001317185
Location:5UTRS;EXON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000225915 CLINVAR
  RCV000418649 CLINVAR
dbSNP (RS) rs564350060 CLINVAR
MedGen C1708349 CLINVAR
  CN169374 CLINVAR
NCBI Gene CDH1 CLINVAR
  LOC130059290 CLINVAR
OMIM 137215 CLINVAR
  192090 CLINVAR