RGD:156189212 Rat Genome Database

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Variant: RGD:156189212 -  Homo sapiens

RGD ID: 156189212
ClinVar ID: CV2086679
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 238,242,192
GRCh38 2 237,333,549
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.7409-1G>A
NM_057167.4:c.8612-1G>A
NM_004369.4:c.9230-1G>A
LRG_473:g.85659G>A
More... 		07/26/2022 splice acceptor variant likely pathogenic Bethlem myopathy 1; Myopathy, benign congenital, with contractures
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL6A3
Accession:NM_057165
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057167
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057166
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057164
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_004369
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:26004199   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002852083 CLINVAR
MedGen CN029274 CLINVAR
NCBI Gene COL6A3 CLINVAR
OMIM 120250 CLINVAR
  158810 CLINVAR