rs1559190144 Rat Genome Database

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Variant: rs1559190144 -  Homo sapiens

RGD ID: 13833488
RS ID: rs1559190144
ClinVar ID: CV584723
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 238,242,195
GRCh38 2 237,333,552
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_473:g.85656A>G
NG_008676.1:g.85656A>G
NC_000002.12:g.237333552T>C
NC_000002.11:g.238242195T>C
More... 		02/03/2022 intron variant likely benign|uncertain significance Bethlem myopathy 1; Myopathy, benign congenital, with contractures; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL6A3
Accession:NM_004369
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057166
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057164
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057167
Location:INTRON

Gene Symbol:COL6A3
Accession:NM_057165
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000728763 CLINVAR
  RCV002536416 CLINVAR
dbSNP (RS) rs1559190144 CLINVAR
MedGen C3661900 CLINVAR
  CN029274 CLINVAR
NCBI Gene COL6A3 CLINVAR
OMIM 120250 CLINVAR
  158810 CLINVAR