RGD:13490619 Rat Genome Database

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Variant: RGD:13490619 -  Homo sapiens

RGD ID: 13490619
RS ID: rs1000052939
ClinVar ID: CV462681
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 58,145,482
GRCh38 12 57,751,699
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_490:g.5683G>A
NG_007484.2:g.5683G>A
NC_000012.12:g.57751699C>T
NC_000012.11:g.58145482C>T
More... 		07/02/2018 missense variant uncertain significance Cancer predisposition; Cutaneous malignant melanoma 3; 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: E to K (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSRYKPVAEIGVGAYGTVYKARDPHSGHFVALKSVRVPNGGGGGGGLPISTVREVALLRRLEAFEHPNVVRLMDVCAT
SRTDREIKVTLVFEHVDQDLRTYLDKAPPPGLPAETIKDLMRQFLRGLDFLHANCIVHRDLKPENILVTSGGTVKLADFG
LARIYSYQMALTPVVVTLWYRAPEVLLQSTYATPVDMWSVGCIFAEMFRRKPLFCGNSEADQLGKIFDLIGLPPEDDWPR
DVSLPRGAFPPRGPRPVQSVVPEMEESGAQLLLEMLTFNPHKRISAFRALQHSYLHKDEGNPE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000533639 CLINVAR
  RCV000709235 CLINVAR
  RCV002420412 CLINVAR
dbSNP (RS) rs1000052939 CLINVAR
MedGen C0027672 CLINVAR
  C1512419 CLINVAR
  C1836892 CLINVAR
NCBI Gene CDK4 CLINVAR
OMIM 123829 CLINVAR
  609048 CLINVAR
SNOMED CT 699346009 CLINVAR