RGD:156379279 Rat Genome Database

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Variant: RGD:156379279 -  Homo sapiens

RGD ID: 156379279
ClinVar ID: CV1997664
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 238,263,539
GRCh38 2 237,354,896
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_057166.5:c.4806+3G>A
NM_057167.4:c.6009+3G>A
NM_004369.4:c.6627+3G>A
LRG_473:g.64312G>A
More... 		09/15/2022 intron variant uncertain significance Bethlem myopathy 1; Myopathy, benign congenital, with contractures; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL6A3
Accession:NM_057166
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057165
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_004369
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057164
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057167
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002653545 CLINVAR
  RCV003146600 CLINVAR
MedGen C3661900 CLINVAR
  CN029274 CLINVAR
NCBI Gene COL6A3 CLINVAR
OMIM 120250 CLINVAR
  158810 CLINVAR