RGD:13482461 Rat Genome Database

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Variant: RGD:13482461 -  Homo sapiens

RGD ID: 13482461
RS ID: rs756190836
ClinVar ID: CV461653
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  LOC129663099  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 12,870,776
GRCh38 12 12,717,842
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004064.4:c.3G>A
NG_016341.1:g.5475G>A
NC_000012.12:g.12717842G>A
NC_000012.11:g.12870776G>A
More... 		08/01/2022 initiatior codon variant|initiator_codon_variant|missense variant likely benign|uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; Neoplastic Syndromes, Hereditary; 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: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
ISNVRVSNGSPSLERMDARQAEHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKWNFDFQNHKPLEGKYEWQEVE
KGSLPEFYYRPPRPPKGACKVPAQESQDVSGSRPAAPLIGAPANSEDTHLVDPKTDPSDSQTGLAEQCAGIRKRPATDDS
STQNKRANRTEENVSDGSPNAGSVEQTPKKPGLRRRQT*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:29625052  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000551866 CLINVAR
  RCV002377114 CLINVAR
dbSNP (RS) rs756190836 CLINVAR
MedGen C0027672 CLINVAR
  C1970712 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR
SNOMED CT 699346009 CLINVAR