rs1085308043 Rat Genome Database

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Variant: rs1085308043 -  Homo sapiens

RGD ID: 12911300
RS ID: rs1085308043
ClinVar ID: CV416937
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 89,685,268
GRCh38 10 87,925,511
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_311:g.67073A>G
NG_007466.2:g.67073A>G
NC_000010.11:g.87925511A>G
NC_000010.10:g.89685268A>G
More... 		10/01/2018 intron variant pathogenic Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; PTEN Hamartomatous Tumour Syndrome; 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:9467011   PMID:16199547   PMID:21194675   PMID:28492532   PMID:28526761   PMID:28677221  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000490612 CLINVAR
  RCV000516092 CLINVAR
  RCV000657856 CLINVAR
  RCV001012591 CLINVAR
dbSNP (RS) rs1085308043 CLINVAR
MedGen C0027672 CLINVAR
  C1959582 CLINVAR
  C3661900 CLINVAR
  CN072330 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 158350 CLINVAR
  601728 CLINVAR
SNOMED CT 699346009 CLINVAR