RGD:8600375 Rat Genome Database

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Variant: RGD:8600375 -  Homo sapiens

RGD ID: 8600375
RS ID: rs11547328
ClinVar ID: CV31967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 58,145,431
GRCh38 12 57,751,648
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000012.12:g.57751648G>A
NC_000012.11:g.58145431G>A
NP_000066.1:p.Arg24Cys
LRG_490:g.5734C>T
More... 		04/30/2020 missense|missense variant pathogenic|likely pathogenic|risk factor adult|variable 1-9 / 100 000 Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Cancer predisposition; Cutaneous malignant melanoma 3; Cutaneous melanoma; Hereditary Cancer Syndrome; Hereditary cutaneous melanoma; Hereditary melanoma; Hereditary neoplastic syndrome; Kahler disease; Malignant melanoma, somatic; Multiple myeloma, somatic; Myelomatosis; Neoplastic Syndromes, Hereditary; none provided; Plasma cell dyscrasia; Plasma cell myeloma; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CDK4
Accession:NM_000075
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSRYEPVAEIGVGAYGTVYKACDPHSGHFVALKSVRVPNGGGGGGGLPISTVREVALLRRLEAFEHPNVVRLMDVCAT
SRTDREIKVTLVFEHVDQDLRTYLDKAPPPGLPAETIKDLMRQFLRGLDFLHANCIVHRDLKPENILVTSGGTVKLADFG
LARIYSYQMALTPVVVTLWYRAPEVLLQSTYATPVDMWSVGCIFAEMFRRKPLFCGNSEADQLGKIFDLIGLPPEDDWPR
DVSLPRGAFPPRGPRPVQSVVPEMEESGAQLLLEMLTFNPHKRISAFRALQHSYLHKDEGNPE*
Variant Samples
Additional References at PubMed
PMID:7652577   PMID:8528263   PMID:9228064   PMID:11756559   PMID:22804906   PMID:23384855   PMID:25741868   PMID:26619011   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018436 CLINVAR
  RCV000168188 CLINVAR
  RCV000420489 CLINVAR
  RCV000426326 CLINVAR
  RCV000438126 CLINVAR
  RCV000484583 CLINVAR
  RCV000584153 CLINVAR
dbSNP (RS) rs11547328 CLINVAR
MedGen C0026764 CLINVAR
  C0027672 CLINVAR
  C0151779 CLINVAR
  C0152013 CLINVAR
  C1512419 CLINVAR
  C1836892 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDK4 CLINVAR
OMIM 123829 CLINVAR
  254500 CLINVAR
  609048 CLINVAR
OMIM Allele 123829.0001 CLINVAR
SNOMED CT 109989006 CLINVAR
  699346009 CLINVAR
  93655004 CLINVAR