rs372744024 Rat Genome Database

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Variant: rs372744024 -  Homo sapiens

RGD ID: 11548310
RS ID: rs372744024
ClinVar ID: CV250696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 238,305,359
GRCh38 2 237,396,716
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_473t1:c.91+11G>C
LRG_473:g.22492G>C
NG_008676.1:g.22492G>C
NC_000002.12:g.237396716C>G
More... 		01/13/2018 intron variant benign|likely benign AllHighlyPenetrant; Bethlem myopathy 1; Collagen VI-related myopathy; Myopathy, benign congenital, with contractures
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL6A3
Accession:NM_057164
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_004369
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057165
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057167
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057166
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000248923 CLINVAR
  RCV000341958 CLINVAR
  RCV002058157 CLINVAR
dbSNP (RS) rs372744024 CLINVAR
MedGen CN029274 CLINVAR
  CN117976 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL6A3 CLINVAR
OMIM 120250 CLINVAR
  158810 CLINVAR