RGD:155747181 Rat Genome Database

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Variant: RGD:155747181 -  Homo sapiens

RGD ID: 155747181
ClinVar ID: CV1816728
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLLN  LOC130004273  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 89,623,205
GRCh38 10 87,863,448
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1087t1:c.-961G>A
LRG_311t1:c.-1021C>T
NM_000314.6:c.-1021C>T
NM_001304718.1:c.-1726C>T
More...
03/02/2016 5 prime utr variant uncertain significance 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 RCV002416632 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene KLLN CLINVAR
  LOC130004273 CLINVAR
  PTEN CLINVAR
OMIM 601728 CLINVAR
  612105 CLINVAR
SNOMED CT 699346009 CLINVAR