RGD:28867259 Rat Genome Database

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Variant: RGD:28867259 -  Homo sapiens

RGD ID: 28867259
RS ID: rs976297634
ClinVar ID: CV869529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN1B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 12,870,552
GRCh38 12 12,717,618
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.-222C>T
NG_016341.1:g.5251C>T
NC_000012.12:g.12717618C>T
NC_000012.11:g.12870552C>T
More... 		01/12/2018 5 prime utr 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:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001111698 CLINVAR
dbSNP (RS) rs976297634 CLINVAR
MedGen C1970712 CLINVAR
NCBI Gene CDKN1B CLINVAR
OMIM 600778 CLINVAR
  610755 CLINVAR