RGD:38479835 Rat Genome Database

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Variant: RGD:38479835 -  Homo sapiens

RGD ID: 38479835
RS ID: rs143879243
ClinVar ID: CV935951
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 12,871,237
GRCh38 12 12,718,303
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.464C>T
NG_016341.1:g.5936C>T
NC_000012.12:g.12718303C>T
NC_000012.11:g.12871237C>T
More... 		10/04/2019 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: P to L (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNVRVSNGSPSLERMDARQAEHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKWNFDFQNHKPLEGKYEWQEVE
KGSLPEFYYRPPRPPKGACKVPAQESQDVSGSRPAAPLIGAPANSEDTHLVDPKTDPSDSQTGLAEQCAGIRKRLATDDS
STQNKRANRTEENVSDGSPNAGSVEQTPKKPGLRRRQT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001206147 CLINVAR
dbSNP (RS) rs143879243 CLINVAR
MedGen C1970712 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR