RGD:8692570 Rat Genome Database

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Variant: RGD:8692570 -  Homo sapiens

RGD ID: 8692570
RS ID: rs34149102
ClinVar ID: CV142539
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLLN  LOC130004273  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 89,623,200
GRCh38 10 87,863,443
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_311t1:c.-1026C>A
LRG_311:g.5006C>A
c.-1027C>A[hg19]
NM_000314.5:c.-1026C>A
More... 		01/09/2019 5 prime utr variant|upstream transcript variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; Cancer predisposition; COWDEN DISEASE 4; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KLLN
Accession:NM_001126049
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000127649 CLINVAR
  RCV000710301 CLINVAR
  RCV001723700 CLINVAR
  RCV001803005 CLINVAR
  RCV002258808 CLINVAR
dbSNP (RS) rs34149102 CLINVAR
MedGen C0027672 CLINVAR
  C1959582 CLINVAR
  C3554517 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KLLN CLINVAR
  LOC130004273 CLINVAR
  PTEN CLINVAR
OMIM 601728 CLINVAR
  612105 CLINVAR
  615107 CLINVAR
SNOMED CT 699346009 CLINVAR