RGD:38598161 Rat Genome Database

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Variant: RGD:38598161 -  Homo sapiens

RGD ID: 38598161
RS ID: rs112645828
ClinVar ID: CV963186
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 47,545,376
GRCh38 21 46,125,462
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_058175.3:c.1817-3C>G
LRG_476t1:c.1817-3C>G
NM_001849.4:c.1817-3C>G
NM_058174.3:c.1817-3C>G
More... 		12/19/2022 intron variant pathogenic|uncertain significance BETHLEM MYOPATHY 1A; Myopathy, benign congenital, with contractures; none provided
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_001849
Location:INTRON

Gene Symbol:COL6A2
Accession:NM_058174
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:32860008  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001251172 CLINVAR
  RCV003145493 CLINVAR
dbSNP (RS) rs112645828 CLINVAR
MedGen C3661900 CLINVAR
  CN029274 CLINVAR
NCBI Gene COL6A2 CLINVAR
OMIM 120240 CLINVAR
  158810 CLINVAR