RGD:13835787 Rat Genome Database

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Variant: RGD:13835787 -  Homo sapiens

RGD ID: 13835787
RS ID: rs376378709
ClinVar ID: CV587050
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 47,536,738
GRCh38 21 46,116,824
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_476t1:c.999+10G>T
LRG_476:g.23706G>T
NG_008675.1:g.23706G>T
NC_000021.9:g.46116824G>T
More... 		12/31/2019 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance BETHLEM MYOPATHY 1A; Myopathy, benign congenital, with contractures; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL6A2
Accession:NM_058174
Location:INTRON

Gene Symbol:COL6A2
Accession:NM_001849
Location:INTRON

Gene Symbol:COL6A2
Accession:NM_058175
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000731682 CLINVAR
  RCV001079075 CLINVAR
  RCV003938111 CLINVAR
dbSNP (RS) rs376378709 CLINVAR
MedGen C3661900 CLINVAR
  CN029274 CLINVAR
NCBI Gene COL6A2 CLINVAR
OMIM 120240 CLINVAR
  158810 CLINVAR