RGD:8697560 Rat Genome Database

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Variant: RGD:8697560 -  Homo sapiens

RGD ID: 8697560
RS ID: rs587782133
ClinVar ID: CV151663
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130004273  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 89,623,358
GRCh38 10 87,863,601
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_311t1:c.-868G>C
LRG_311:g.5164G>C
NG_007466.2:g.5164G>C
NC_000010.11:g.87863601G>C
More... 		03/01/2022 2kb upstream variant|5 prime utr variant conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Cancer predisposition; Cowden syndrome 1; Familial meningioma; Glioma susceptibility 2; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Macrocephaly/autism syndrome; Malignant tumor of prostate; Meningioma, familial, susceptibility to; Neoplastic Syndromes, Hereditary; none provided; Prostate cancer; PTEN hamartoma tumor syndrome; PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders; Tumor predisposition; VACTERL association with hydrocephalus; VACTERL with hydrocephalus; VACTERL-H
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000130678 CLINVAR
  RCV000588328 CLINVAR
  RCV000763682 CLINVAR
  RCV000988408 CLINVAR
  RCV001526858 CLINVAR
dbSNP (RS) rs587782133 CLINVAR
MedGen C0027672 CLINVAR
  C1854416 CLINVAR
  C1959582 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LOC130004273 CLINVAR
  PTEN CLINVAR
OMIM 158350 CLINVAR
  176807 CLINVAR
  276950 CLINVAR
  601728 CLINVAR
  605309 CLINVAR
  607174 CLINVAR
  613028 CLINVAR
SNOMED CT 399068003 CLINVAR
  699346009 CLINVAR