RGD:13803608 Rat Genome Database

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Variant: RGD:13803608 -  Homo sapiens

RGD ID: 13803608
RS ID: rs1565806579
ClinVar ID: CV566985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 58,144,861
GRCh38 12 57,751,078
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.367C>T
NM_000075.3:c.367C>T
LRG_490:g.6304C>T
NC_000012.11:g.58144861G>A
More... 		04/04/2018 nonsense uncertain significance Hereditary cutaneous melanoma; Hereditary melanoma
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDK4
Accession:NM_000075
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSRYEPVAEIGVGAYGTVYKARDPHSGHFVALKSVRVPNGGGGGGGLPISTVREVALLRRLEAFEHPNVVRLMDVCAT
SRTDREIKVTLVFEHVDQDLRTYLDKAPPPGLPAETIKDLMR*FLRGLDFLHANCIVHRDLKPENILVTSGGTVKLADFG
LARIYSYQMALTPVVVTLWYRAPEVLLQSTYATPVDMWSVGCIFAEMFRRKPLFCGNSEADQLGKIFDLIGLPPEDDWPR
DVSLPRGAFPPRGPRPVQSVVPEMEESGAQLLLEMLTFNPHKRISAFRALQHSYLHKDEGNPE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000684996 CLINVAR
dbSNP (RS) rs1565806579 CLINVAR
MedGen C1512419 CLINVAR
NCBI Gene CDK4 CLINVAR
OMIM 123829 CLINVAR