RGD:126909610 Rat Genome Database

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Variant: RGD:126909610 -  Homo sapiens

RGD ID: 126909610
RS ID: rs751657844
ClinVar ID: CV1047706
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 12,871,248
GRCh38 12 12,718,314
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.475G>A
NC_000012.11:g.12871248G>A
NP_004055.1:p.Asp159Asn
NG_016341.1:g.5947G>A
More... 		02/04/2020 missense variant 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:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532   PMID:35323929  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001368555 CLINVAR
  RCV003339622 CLINVAR
dbSNP (RS) rs751657844 CLINVAR
MedGen C0027672 CLINVAR
  C1970712 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR
SNOMED CT 699346009 CLINVAR