RGD:13616943 Rat Genome Database

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Variant: RGD:13616943 -  Homo sapiens

RGD ID: 13616943
RS ID: rs1554825266
ClinVar ID: CV525509
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 89,717,776
GRCh38 10 87,958,019
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000314.4:c.801G>T
NP_000305.3:p.Lys267Asn
LRG_311:g.99581G>T
NG_007466.2:g.99581G>T
More... 		06/24/2022 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance 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_001304717
Location:INTRON

Gene Symbol:PTEN
Accession:NM_001304718
Location:INTRON

Gene Symbol:PTEN
Accession:NM_000314
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:26467025   PMID:28492532   PMID:30528446  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000645055 CLINVAR
  RCV001312161 CLINVAR
  RCV002422336 CLINVAR
dbSNP (RS) rs1554825266 CLINVAR
MedGen C0027672 CLINVAR
  C1959582 CLINVAR
  C3661900 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 601728 CLINVAR
SNOMED CT 699346009 CLINVAR