RGD:156218503 Rat Genome Database

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Variant: RGD:156218503 -  Homo sapiens

RGD ID: 156218503
ClinVar ID: CV2087447
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 238,258,861
GRCh38 2 237,350,218
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008676.1:g.68990C>G
NC_000002.12:g.237350218G>C
NM_057166.5:c.4996-9C>G
NM_057167.4:c.6199-9C>G
More... 		08/20/2022 intron variant likely benign 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_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

Gene Symbol:COL6A3
Accession:NM_057164
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002875772 CLINVAR
MedGen CN029274 CLINVAR
NCBI Gene COL6A3 CLINVAR
OMIM 120250 CLINVAR
  158810 CLINVAR