RGD:11613045 Rat Genome Database

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Variant: RGD:11613045 -  Homo sapiens

RGD ID: 11613045
RS ID: rs549943001
ClinVar ID: CV331118
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 12,870,648
GRCh38 12 12,717,714
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016341.1:g.5347C>T
NC_000012.12:g.12717714C>T
NC_000012.11:g.12870648C>T
NM_004064.3:c.-126C>T
More... 		12/23/2021 5 prime utr variant benign|likely benign MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
Disease Annotations     Click to see Annotation Detail View


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 RCV000264729 CLINVAR
dbSNP (RS) rs549943001 CLINVAR
MedGen C1970712 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR