RGD:11611898 Rat Genome Database

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Variant: RGD:11611898 -  Homo sapiens

RGD ID: 11611898
RS ID: rs759319348
ClinVar ID: CV318157
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  LOC127824399  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 58,146,061
GRCh38 12 57,752,278
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_490:g.5104T>G
NG_007484.2:g.5104T>G
NC_000012.12:g.57752278A>C
NC_000012.11:g.58146061A>C
More... 		05/19/2021 5 prime utr variant benign|uncertain significance Cancer predisposition; Cutaneous malignant melanoma 3; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDK4
Accession:NM_000075
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000400734 CLINVAR
  RCV002258869 CLINVAR
  RCV003389791 CLINVAR
dbSNP (RS) rs759319348 CLINVAR
MedGen C0027672 CLINVAR
  C1836892 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDK4 CLINVAR
OMIM 123829 CLINVAR
  609048 CLINVAR
SNOMED CT 699346009 CLINVAR