RGD:13500426 Rat Genome Database

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Variant: RGD:13500426 -  Homo sapiens

RGD ID: 13500426
RS ID: rs760890154
ClinVar ID: CV469807
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 47,551,863
GRCh38 21 46,131,949
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001849.4:c.2462-5C>T
LRG_476t1:c.2462-5C>T
LRG_476:g.38831C>T
NG_008675.1:g.38831C>T
More... 		12/31/2019 intron variant likely benign BETHLEM MYOPATHY 1A; Myopathy, benign congenital, with contractures
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL6A2
Accession:NM_058175
Location:INTRON

Gene Symbol:COL6A2
Accession:NM_058174
Location:INTRON

Gene Symbol:COL6A2
Accession:NM_001849
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000536832 CLINVAR
dbSNP (RS) rs760890154 CLINVAR
MedGen CN029274 CLINVAR
NCBI Gene COL6A2 CLINVAR
OMIM 120240 CLINVAR
  158810 CLINVAR