RGD:11632272 Rat Genome Database

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Variant: RGD:11632272 -  Homo sapiens

RGD ID: 11632272
RS ID: rs367729011
ClinVar ID: CV351851
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHKB  CHKB-CPT1B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 51,021,237
GRCh38 22 50,582,808
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005198.4:c.-27G>A
LRG_855t1:c.-27G>A
LRG_855:g.5192G>A
NG_029213.1:g.5192G>A
More... 		01/13/2018 5 prime utr variant benign|uncertain significance AllHighlyPenetrant; CHKB-Related Muscle Diseases; MUSCULAR DYSTROPHY, CONGENITAL, WITH MITOCHONDRIAL STRUCTURAL ABNORMALITIES
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHKB
Accession:NM_005198
Location:5UTRS;EXON

Gene Symbol:CHKB-CPT1B
Accession:NR_027928
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000402605 CLINVAR
  RCV000431930 CLINVAR
dbSNP (RS) rs367729011 CLINVAR
MedGen C1865233 CLINVAR
  CN169374 CLINVAR
NCBI Gene CHKB CLINVAR
  CHKB-CPT1B CLINVAR
OMIM 602541 CLINVAR
  612395 CLINVAR