RGD:8658335 Rat Genome Database

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Variant: RGD:8658335 -  Homo sapiens

RGD ID: 8658335
RS ID: rs587780111
ClinVar ID: CV133361
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH1  LOC130059290  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 68,771,301
GRCh38 16 68,737,398
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.-18C>T
LRG_301t1:c.-18C>T
LRG_301:g.5107C>T
NG_008021.1:g.5107C>T
More... 		03/26/2019 5 prime utr variant likely benign|uncertain significance AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; 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;EXON

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

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

Gene Symbol:CDH1
Accession:NM_001317184
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000115831 CLINVAR
  RCV001178273 CLINVAR
dbSNP (RS) rs587780111 CLINVAR
MedGen C0027672 CLINVAR
  CN169374 CLINVAR
NCBI Gene CDH1 CLINVAR
  LOC130059290 CLINVAR
OMIM 192090 CLINVAR
SNOMED CT 699346009 CLINVAR