RGD:8698033 Rat Genome Database

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Variant: RGD:8698033 -  Homo sapiens

RGD ID: 8698033
RS ID: rs587782455
ClinVar ID: CV152137
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 89,720,649
GRCh38 10 87,960,892
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_311t1:c.802-2A>T
LRG_311:g.102454A>T
NG_007466.2:g.102454A>T
NC_000010.11:g.87960892A>T
More... 		11/04/2019 splice acceptor variant pathogenic Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTEN
Accession:NM_001304718
Location:INTRON

Gene Symbol:PTEN
Accession:NM_000314
Location:INTRON

Gene Symbol:PTEN
Accession:NM_001304717
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25669429   PMID:25741868   PMID:27477328   PMID:28013114   PMID:28492532   PMID:28677221  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000131528 CLINVAR
  RCV000212884 CLINVAR
  RCV000516134 CLINVAR
  RCV000710295 CLINVAR
  RCV003917423 CLINVAR
dbSNP (RS) rs587782455 CLINVAR
MedGen C0027672 CLINVAR
  C1959582 CLINVAR
  C3661900 CLINVAR
  CN072330 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 158350 CLINVAR
  601728 CLINVAR
SNOMED CT 699346009 CLINVAR