RGD:13472493 Rat Genome Database

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Variant: RGD:13472493 -  Homo sapiens

RGD ID: 13472493
RS ID: rs1555201373
ClinVar ID: CV476510
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  LOC130008148  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 58,145,348
GRCh38 12 57,751,565
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.153C>T
NM_000075.3:c.153C>T
NC_000012.11:g.58145348G>A
NP_000066.1:p.Ile51=
More... 		07/13/2016 synonymous variant likely benign 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: I to I (synonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSRYEPVAEIGVGAYGTVYKARDPHSGHFVALKSVRVPNGGGGGGGLPISTVREVALLRRLEAFEHPNVVRLMDVCAT
SRTDREIKVTLVFEHVDQDLRTYLDKAPPPGLPAETIKDLMRQFLRGLDFLHANCIVHRDLKPENILVTSGGTVKLADFG
LARIYSYQMALTPVVVTLWYRAPEVLLQSTYATPVDMWSVGCIFAEMFRRKPLFCGNSEADQLGKIFDLIGLPPEDDWPR
DVSLPRGAFPPRGPRPVQSVVPEMEESGAQLLLEMLTFNPHKRISAFRALQHSYLHKDEGNPE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000564080 CLINVAR
  RCV001506023 CLINVAR
dbSNP (RS) rs1555201373 CLINVAR
MedGen C0027672 CLINVAR
  C1512419 CLINVAR
NCBI Gene CDK4 CLINVAR
  LOC130008148 CLINVAR
OMIM 123829 CLINVAR
SNOMED CT 699346009 CLINVAR