RGD:13625537 Rat Genome Database

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Variant: RGD:13625537 -  Homo sapiens

RGD ID: 13625537
RS ID: rs1555873388
ClinVar ID: CV533969
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 47,537,370
GRCh38 21 46,117,456
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_476t1:c.1053+3A>T
LRG_476:g.24338A>T
NG_008675.1:g.24338A>T
NC_000021.9:g.46117456A>T
More... 		09/09/2017 intron variant uncertain significance 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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000653591 CLINVAR
dbSNP (RS) rs1555873388 CLINVAR
MedGen CN029274 CLINVAR
NCBI Gene COL6A2 CLINVAR
OMIM 120240 CLINVAR
  158810 CLINVAR