RGD:151787063 Rat Genome Database

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Variant: RGD:151787063 -  Homo sapiens

RGD ID: 151787063
RS ID: rs2136355461
ClinVar ID: CV1479014
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  LOC129663099  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 12,870,837
GRCh38 12 12,717,903
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_004055.1:p.Glu22Lys
NM_004064.5:c.64G>A
NG_016341.1:g.5536G>A
NC_000012.12:g.12717903G>A
More... 		11/02/2021 missense variant uncertain significance MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN1B
Accession:NM_004064
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNVRVSNGSPSLERMDARQAKHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKWNFDFQNHKPLEGKYEWQEVE
KGSLPEFYYRPPRPPKGACKVPAQESQDVSGSRPAAPLIGAPANSEDTHLVDPKTDPSDSQTGLAEQCAGIRKRPATDDS
STQNKRANRTEENVSDGSPNAGSVEQTPKKPGLRRRQT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002046722 CLINVAR
dbSNP (RS) rs2136355461 CLINVAR
MedGen C1970712 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR