RGD:12902525 Rat Genome Database

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Variant: RGD:12902525 -  Homo sapiens

RGD ID: 12902525
RS ID: rs1064794803
ClinVar ID: CV407957
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLLN  LOC130004273  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 89,623,206
GRCh38 10 87,863,449
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_311:g.5012C>T
NG_007466.2:g.5012C>T
NC_000010.11:g.87863449C>T
NC_000010.10:g.89623206C>T
More... 		10/23/2019 5 prime utr variant uncertain significance AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; 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 Information

Database Acc Id Source(s)
ClinVar RCV000487327 CLINVAR
  RCV001009727 CLINVAR
dbSNP (RS) rs1064794803 CLINVAR
MedGen C0027672 CLINVAR
  CN169374 CLINVAR
NCBI Gene KLLN CLINVAR
  LOC130004273 CLINVAR
  PTEN CLINVAR
OMIM 601728 CLINVAR
  612105 CLINVAR
SNOMED CT 699346009 CLINVAR