RGD:11089763 Rat Genome Database

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Variant: RGD:11089763 -  Homo sapiens

RGD ID: 11089763
RS ID: rs876660318
ClinVar ID: CV234587
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  LOC130008148  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 58,145,368
GRCh38 12 57,751,585
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_490:g.5797G>A
NG_007484.2:g.5797G>A
NC_000012.12:g.57751585C>T
NC_000012.11:g.58145368C>T
More... 		11/13/2017 missense variant uncertain significance adult Cancer predisposition; Hereditary Cancer Syndrome; Hereditary cutaneous melanoma; Hereditary melanoma; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDK4
Accession:NM_000075
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSRYEPVAEIGVGAYGTVYKARDPHSGHFVALKSVRVPNGGGSGGGLPISTVREVALLRRLEAFEHPNVVRLMDVCAT
SRTDREIKVTLVFEHVDQDLRTYLDKAPPPGLPAETIKDLMRQFLRGLDFLHANCIVHRDLKPENILVTSGGTVKLADFG
LARIYSYQMALTPVVVTLWYRAPEVLLQSTYATPVDMWSVGCIFAEMFRRKPLFCGNSEADQLGKIFDLIGLPPEDDWPR
DVSLPRGAFPPRGPRPVQSVVPEMEESGAQLLLEMLTFNPHKRISAFRALQHSYLHKDEGNPE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000215220 CLINVAR
  RCV000638973 CLINVAR
dbSNP (RS) rs876660318 CLINVAR
MedGen C0027672 CLINVAR
  C1512419 CLINVAR
NCBI Gene CDK4 CLINVAR
  LOC130008148 CLINVAR
OMIM 123829 CLINVAR
SNOMED CT 699346009 CLINVAR