rs369124688 Rat Genome Database

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Variant: rs369124688 -  Homo sapiens

RGD ID: 11629041
RS ID: rs369124688
ClinVar ID: CV346865
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 47,552,554
GRCh38 21 46,132,640
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_476t1:c.*88G>C
LRG_476:g.39522G>C
NG_008675.1:g.39522G>C
NC_000021.9:g.46132640G>C
More... 		01/13/2018 3 prime utr variant benign|likely benign Collagen VI-related myopathy; MYOPATHY, MYOSCLEROTIC; Myosclerosis, autosomal recessive; Myosclerosis, congenital; MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL6A2
Accession:NM_001849
Location:3UTRS;EXON

Gene Symbol:COL6A2
Accession:NM_058174
Location:INTRON

Gene Symbol:COL6A2
Accession:NM_058175
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000313405 CLINVAR
  RCV000370413 CLINVAR
  RCV004703853 CLINVAR
dbSNP (RS) rs369124688 CLINVAR
MedGen C1850671 CLINVAR
  C3661900 CLINVAR
  CN117976 CLINVAR
NCBI Gene COL6A2 CLINVAR
OMIM 120240 CLINVAR
  255600 CLINVAR