RGD:12836315 Rat Genome Database

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Variant: RGD:12836315 -  Homo sapiens

RGD ID: 12836315
RS ID: rs1057521654
ClinVar ID: CV371544
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 89,653,878
GRCh38 10 87,894,121
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000314.8:c.164+12T>C
LRG_311:g.35683T>C
NG_007466.2:g.35683T>C
NC_000010.11:g.87894121T>C
More... 		06/20/2018 intron variant likely benign AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; 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:5UTRS;INTRON

Gene Symbol:PTEN
Accession:NM_001304717
Location:INTRON

Gene Symbol:PTEN
Accession:NM_000314
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000423185 CLINVAR
  RCV000776548 CLINVAR
  RCV002062626 CLINVAR
dbSNP (RS) rs1057521654 CLINVAR
MedGen C0027672 CLINVAR
  C1959582 CLINVAR
  CN169374 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 601728 CLINVAR
SNOMED CT 699346009 CLINVAR