RGD:26918825 Rat Genome Database

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Variant: RGD:26918825 -  Homo sapiens

RGD ID: 26918825
RS ID: rs1555085482
ClinVar ID: CV839384
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  LOC129663099  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 12,870,802
GRCh38 12 12,717,868
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.29G>C
NG_016341.1:g.5501G>C
NC_000012.12:g.12717868G>C
NC_000012.11:g.12870802G>C
More... 		10/20/2019 missense variant uncertain significance MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN1B
Accession:NM_004064
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNVRVSNGTPSLERMDARQAEHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKWNFDFQNHKPLEGKYEWQEVE
KGSLPEFYYRPPRPPKGACKVPAQESQDVSGSRPAAPLIGAPANSEDTHLVDPKTDPSDSQTGLAEQCAGIRKRPATDDS
STQNKRANRTEENVSDGSPNAGSVEQTPKKPGLRRRQT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001058315 CLINVAR
  RCV003153914 CLINVAR
dbSNP (RS) rs1555085482 CLINVAR
MedGen C1970712 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR