RGD:13503361 Rat Genome Database

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Variant: RGD:13503361 -  Homo sapiens

RGD ID: 13503361
RS ID: rs749529856
ClinVar ID: CV470772
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 47,417,327
GRCh38 21 45,997,413
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_475t1:c.1399-8C>G
LRG_475:g.20665C>G
NG_008674.1:g.20665C>G
NC_000021.9:g.45997413C>G
More... 		07/30/2020 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:COL6A1
Accession:NM_001848
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000592205 CLINVAR
  RCV001424700 CLINVAR
dbSNP (RS) rs749529856 CLINVAR
MedGen C3661900 CLINVAR
  CN029274 CLINVAR
NCBI Gene COL6A1 CLINVAR
OMIM 120220 CLINVAR
  158810 CLINVAR