RGD:13512681 Rat Genome Database

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Variant: RGD:13512681 -  Homo sapiens

RGD ID: 13512681
RS ID: rs753190893
ClinVar ID: CV484110
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 89,720,895
GRCh38 10 87,961,138
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_311:g.102700T>G
NG_007466.2:g.102700T>G
NC_000010.11:g.87961138T>G
NC_000010.10:g.89720895T>G
More... 		11/14/2016 intron variant benign|likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; 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_000314
Location:INTRON

Gene Symbol:PTEN
Accession:NM_001304718
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000583971 CLINVAR
  RCV001653933 CLINVAR
dbSNP (RS) rs753190893 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 601728 CLINVAR
SNOMED CT 699346009 CLINVAR