rs761150742 Rat Genome Database

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Variant: rs761150742 -  Homo sapiens

RGD ID: 151882099
RS ID: rs761150742
ClinVar ID: CV1371137
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 238,250,691
GRCh38 2 237,342,048
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.5944+17A>G
NM_057167.4:c.7147+17A>G
NM_004369.4:c.7765+17A>G
LRG_473:g.77160A>G
More... 		10/08/2021 intron variant uncertain significance 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_057167
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057166
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_004369
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057164
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 RCV001886661 CLINVAR
dbSNP (RS) rs761150742 CLINVAR
MedGen CN029274 CLINVAR
NCBI Gene COL6A3 CLINVAR
OMIM 120250 CLINVAR
  158810 CLINVAR