rs368631950 Rat Genome Database

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Variant: rs368631950 -  Homo sapiens

RGD ID: 11597659
RS ID: rs368631950
ClinVar ID: CV285419
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 238,258,775
GRCh38 2 237,350,132
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_473t1:c.6879+15C>T
LRG_473:g.69076C>T
NG_008676.1:g.69076C>T
NC_000002.12:g.237350132G>A
More... 		12/22/2023 intron variant benign|likely benign|uncertain significance 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_057166
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_004369
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057167
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057165
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000396716 CLINVAR
  RCV003517185 CLINVAR
dbSNP (RS) rs368631950 CLINVAR
MedGen CN029274 CLINVAR
  CN117976 CLINVAR
NCBI Gene COL6A3 CLINVAR
OMIM 120250 CLINVAR
  158810 CLINVAR