RGD:13488735 Rat Genome Database

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Variant: RGD:13488735 -  Homo sapiens

RGD ID: 13488735
RS ID: rs1555201372
ClinVar ID: CV477102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  LOC130008148  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 58,145,338
GRCh38 12 57,751,555
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_490:g.5827C>T
NG_007484.2:g.5827C>T
NC_000012.12:g.57751555G>A
NC_000012.11:g.58145338G>A
More... 		06/03/2016 missense variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; 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: R to C (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSRYEPVAEIGVGAYGTVYKARDPHSGHFVALKSVRVPNGGGGGGGLPISTVCEVALLRRLEAFEHPNVVRLMDVCAT
SRTDREIKVTLVFEHVDQDLRTYLDKAPPPGLPAETIKDLMRQFLRGLDFLHANCIVHRDLKPENILVTSGGTVKLADFG
LARIYSYQMALTPVVVTLWYRAPEVLLQSTYATPVDMWSVGCIFAEMFRRKPLFCGNSEADQLGKIFDLIGLPPEDDWPR
DVSLPRGAFPPRGPRPVQSVVPEMEESGAQLLLEMLTFNPHKRISAFRALQHSYLHKDEGNPE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000569008 CLINVAR
dbSNP (RS) rs1555201372 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene CDK4 CLINVAR
  LOC130008148 CLINVAR
OMIM 123829 CLINVAR
SNOMED CT 699346009 CLINVAR