RGD:151879880 Rat Genome Database

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Variant: RGD:151879880 -  Homo sapiens

RGD ID: 151879880
RS ID: rs755225286
ClinVar ID: CV1395712
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  LOC129663099  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 12,870,798
GRCh38 12 12,717,864
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004064.5:c.25G>C
NG_016341.1:g.5497G>C
NC_000012.12:g.12717864G>C
NC_000012.11:g.12870798G>C
More... 		08/16/2021 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: G to R (nonsynonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNVRVSNRSPSLERMDARQAEHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKWNFDFQNHKPLEGKYEWQEVE
KGSLPEFYYRPPRPPKGACKVPAQESQDVSGSRPAAPLIGAPANSEDTHLVDPKTDPSDSQTGLAEQCAGIRKRPATDDS
STQNKRANRTEENVSDGSPNAGSVEQTPKKPGLRRRQT*
Variant Samples
Additional References at PubMed
PMID:21289244   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001999396 CLINVAR
dbSNP (RS) rs755225286 CLINVAR
MedGen C1970712 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR