RGD:13467397 Rat Genome Database

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Variant: RGD:13467397 -  Homo sapiens

RGD ID: 13467397
RS ID: rs1554893746
ClinVar ID: CV416967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 89,653,779
GRCh38 10 87,894,022
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_311:g.35584C>G
NC_000010.11:g.87894022C>G
NG_007466.2:g.35584C>G
NC_000010.10:g.89653779C>G
More... 		02/02/2023 intron variant uncertain significance PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders
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:9536098   PMID:17576681   PMID:25288137   PMID:28492532   PMID:28677221  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000516062 CLINVAR
  RCV003509548 CLINVAR
dbSNP (RS) rs1554893746 CLINVAR
MedGen C1959582 CLINVAR
  CN072330 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 158350 CLINVAR
  601728 CLINVAR