RGD:11611034 Rat Genome Database

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Variant: RGD:11611034 -  Homo sapiens

RGD ID: 11611034
RS ID: rs2066827
ClinVar ID: CV316333
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 12,871,099
GRCh38 12 12,718,165
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.5798T>A
NC_000012.12:g.12718165T>A
NC_000012.11:g.12871099T>A
NM_004064.3:c.326T>A
More... 		04/28/2022 missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance 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: V to D (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNVRVSNGSPSLERMDARQAEHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKWNFDFQNHKPLEGKYEWQEVE
KGSLPEFYYRPPRPPKGACKVPAQESQDDSGSRPAAPLIGAPANSEDTHLVDPKTDPSDSQTGLAEQCAGIRKRPATDDS
STQNKRANRTEENVSDGSPNAGSVEQTPKKPGLRRRQT*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000460482 CLINVAR
  RCV001019555 CLINVAR
  RCV003477882 CLINVAR
  RCV003897706 CLINVAR
dbSNP (RS) rs2066827 CLINVAR
MedGen C0027672 CLINVAR
  C1970712 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR
SNOMED CT 699346009 CLINVAR