RGD:13501417 Rat Genome Database

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Variant: RGD:13501417 -  Homo sapiens

RGD ID: 13501417
RS ID: rs1555873356
ClinVar ID: CV469763
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 47,537,312
GRCh38 21 46,117,398
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000021.9:g.46117398A>C
NC_000021.8:g.47537312A>C
LRG_476t1:c.1000-2A>C
LRG_476:g.24280A>C
More... 		09/28/2018 splice acceptor variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity 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:16199547   PMID:17886299   PMID:18366090   PMID:20976770   PMID:21280092   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000540933 CLINVAR
  RCV000578736 CLINVAR
dbSNP (RS) rs1555873356 CLINVAR
MedGen C3661900 CLINVAR
  CN029274 CLINVAR
NCBI Gene COL6A2 CLINVAR
OMIM 120240 CLINVAR
  158810 CLINVAR