RGD:13515284 Rat Genome Database

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Variant: RGD:13515284 -  Homo sapiens

RGD ID: 13515284
RS ID: rs754900547
ClinVar ID: CV488662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 47,546,454
GRCh38 21 46,126,540
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001849.3:c.2460A>C
NM_058174.3:c.2460A>C
NP_478054.2:p.Thr820=
NP_001840.3:p.Thr820=
More... 		05/26/2022 synonymous 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:EXON

Gene Symbol:COL6A2
Accession:NM_001849
Location:EXON

Gene Symbol:COL6A2
Accession:NM_058174
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000594087 CLINVAR
  RCV001037010 CLINVAR
dbSNP (RS) rs754900547 CLINVAR
MedGen C3661900 CLINVAR
  CN029274 CLINVAR
NCBI Gene COL6A2 CLINVAR
OMIM 120240 CLINVAR
  158810 CLINVAR