RGD:127266778 Rat Genome Database

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Variant: RGD:127266778 -  Homo sapiens

RGD ID: 127266778
RS ID: rs1431449120
ClinVar ID: CV1100897
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 12,871,257
GRCh38 12 12,718,323
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.475+9C>G
NG_016341.1:g.5956C>G
NC_000012.12:g.12718323C>G
NC_000012.11:g.12871257C>G
 09/01/2020 intron variant likely benign MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001440348 CLINVAR
dbSNP (RS) rs1431449120 CLINVAR
MedGen C1970712 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR