RGD:12888919 Rat Genome Database

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Variant: RGD:12888919 -  Homo sapiens

RGD ID: 12888919
RS ID: rs367611328
ClinVar ID: CV398500
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  LOC129663099  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 12,870,848
GRCh38 12 12,717,914
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.5547G>A
NC_000012.12:g.12717914G>A
NC_000012.11:g.12870848G>A
NP_004055.1:p.Lys25=
More... 		12/04/2020 synonymous variant likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN1B
Accession:NM_004064
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNVRVSNGSPSLERMDARQAEHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKWNFDFQNHKPLEGKYEWQEVE
KGSLPEFYYRPPRPPKGACKVPAQESQDVSGSRPAAPLIGAPANSEDTHLVDPKTDPSDSQTGLAEQCAGIRKRPATDDS
STQNKRANRTEENVSDGSPNAGSVEQTPKKPGLRRRQT*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000471828 CLINVAR
  RCV000575706 CLINVAR
  RCV001085206 CLINVAR
  RCV003902661 CLINVAR
dbSNP (RS) rs367611328 CLINVAR
MedGen C0027672 CLINVAR
  C1970712 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR
SNOMED CT 699346009 CLINVAR