RGD:11593430 Rat Genome Database

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Variant: RGD:11593430 -  Homo sapiens

RGD ID: 11593430
RS ID: rs117734465
ClinVar ID: CV288804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 238,274,329
GRCh38 2 237,365,686
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004369.3:c.5838+12C>A
LRG_473t1:c.5838+12C>A
NC_000002.11:g.238274329G>T
LRG_473:g.53522C>A
More...
01/12/2018 intron variant benign|likely benign BETHLEM MYOPATHY 1A; 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_057166
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057167
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 RCV000348854 CLINVAR
  RCV002057679 CLINVAR
dbSNP (RS) rs117734465 CLINVAR
MedGen CN029274 CLINVAR
  CN117976 CLINVAR
NCBI Gene COL6A3 CLINVAR
OMIM 120250 CLINVAR
  158810 CLINVAR