RGD:13472532 Rat Genome Database

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Variant: RGD:13472532 -  Homo sapiens

RGD ID: 13472532
RS ID: rs1555516200
ClinVar ID: CV466577
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: CDH1  
Reference Nucleotide: -
Variant Nucleotide: TT
Position
Assembly Chr Position
GRCh37 16 68,849,663
GRCh38 16 68,815,760
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_301:g.83470_83471insTT
NC_000016.10:g.68815761_68815762insTT
NC_000016.9:g.68849664_68849665insTT
NG_008021.1:g.83470_83471insTT
More... 		04/01/2022 intron variant|splice donor variant pathogenic|likely pathogenic Cancer predisposition; Hereditary Cancer Syndrome; Hereditary diffuse gastric cancer; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; 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_001317184
Location:INTRON

Gene Symbol:CDH1
Accession:NM_004360
Location:INTRON

Gene Symbol:CDH1
Accession:NM_001317185
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:24389957   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000532475 CLINVAR
  RCV000567317 CLINVAR
  RCV002268147 CLINVAR
dbSNP (RS) rs1555516200 CLINVAR
MedGen C0027672 CLINVAR
  C1708349 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDH1 CLINVAR
OMIM 137215 CLINVAR
  192090 CLINVAR
SNOMED CT 699346009 CLINVAR