RGD:11050522 Rat Genome Database

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Variant: RGD:11050522 -  Homo sapiens

RGD ID: 11050522
RS ID: rs551236750
ClinVar ID: CV213770
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  LOC129663099  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 12,870,694
GRCh38 12 12,717,760
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004064.3:c.-80C>T
NG_016341.1:g.5393C>T
NC_000012.12:g.12717760C>T
NC_000012.11:g.12870694C>T
More... 		01/09/2021 5 prime utr variant pathogenic|benign|likely benign|uncertain significance MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; none provided; Primary hyperparathyroidism (disease); Primary hyperthyroidism
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CDKN1B
Accession:NM_004064
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000210356 CLINVAR
  RCV000782206 CLINVAR
  RCV001111699 CLINVAR
  RCV003967537 CLINVAR
dbSNP (RS) rs551236750 CLINVAR
MedGen C0221002 CLINVAR
  C1970712 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR
SNOMED CT 36348003 CLINVAR