RGD:15118489 Rat Genome Database

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Variant: RGD:15118489 -  Homo sapiens

RGD ID: 15118489
RS ID: rs1595110993
ClinVar ID: CV769253
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  LOC130008148  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 58,145,323
GRCh38 12 57,751,540
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.178C>T
NG_007484.2:g.5842C>T
NC_000012.12:g.57751540G>A
NC_000012.11:g.58145323G>A
More... 		11/21/2018 synonymous variant likely benign 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: L to L (synonymous)
Amino Acid Position: 60
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 RCV001425260 CLINVAR
dbSNP (RS) rs1595110993 CLINVAR
MedGen C1512419 CLINVAR
NCBI Gene CDK4 CLINVAR
  LOC130008148 CLINVAR
OMIM 123829 CLINVAR