RGD:152114827 Rat Genome Database

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Variant: RGD:152114827 -  Homo sapiens

RGD ID: 152114827
RS ID: rs368072665
ClinVar ID: CV1659698
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 47,542,002
GRCh38 21 46,122,088
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.1522-20G>A
NM_058174.3:c.1522-20G>A
NM_058175.3:c.1522-20G>A
LRG_476:g.28970G>A
More... 		08/09/2021 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_001849
Location:INTRON

Gene Symbol:COL6A2
Accession:NM_058175
Location:INTRON

Gene Symbol:COL6A2
Accession:NM_058174
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002080750 CLINVAR
  RCV003913617 CLINVAR
dbSNP (RS) rs368072665 CLINVAR
MedGen CN029274 CLINVAR
NCBI Gene COL6A2 CLINVAR
OMIM 120240 CLINVAR
  158810 CLINVAR