RGD:25318454 Rat Genome Database

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Variant: RGD:25318454 -  Homo sapiens

RGD ID: 25318454
RS ID: rs534581124
ClinVar ID: CV811144
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 12,871,184
GRCh38 12 12,718,250
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.411G>A
NG_016341.1:g.5883G>A
NC_000012.12:g.12718250G>A
NC_000012.11:g.12871184G>A
More... 		03/09/2019 synonymous variant likely benign 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: P to P (synonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNVRVSNGSPSLERMDARQAEHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKWNFDFQNHKPLEGKYEWQEVE
KGSLPEFYYRPPRPPKGACKVPAQESQDVSGSRPAAPLIGAPANSEDTHLVDPKTDPSDSQTGLAEQCAGIRKRPATDDS
STQNKRANRTEENVSDGSPNAGSVEQTPKKPGLRRRQT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001021905 CLINVAR
  RCV001453721 CLINVAR
dbSNP (RS) rs534581124 CLINVAR
MedGen C0027672 CLINVAR
  C1970712 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR
SNOMED CT 699346009 CLINVAR