RGD:14728166 Rat Genome Database

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Variant: RGD:14728166 -  Homo sapiens

RGD ID: 14728166
RS ID: rs3211614
ClinVar ID: CV666817
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 58,144,921
GRCh38 12 57,751,138
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000075.4:c.355-48G>C
NG_007484.2:g.6244G>C
NC_000012.12:g.57751138C>G
NC_000012.11:g.58144921C>G
More... 		01/21/2022 intron variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:CDK4
Accession:NM_000075
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000834657 CLINVAR
  RCV002268317 CLINVAR
dbSNP (RS) rs3211614 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene CDK4 CLINVAR
OMIM 123829 CLINVAR