RGD:11637128 Rat Genome Database

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Variant: RGD:11637128 -  Homo sapiens

RGD ID: 11637128
RS ID: rs368651226
ClinVar ID: CV270268
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 47,423,072
GRCh38 21 46,003,158
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_475t1:c.2464+9C>T
LRG_475:g.26410C>T
NG_008674.1:g.26410C>T
NC_000021.9:g.46003158C>T
More... 		02/15/2018 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; BETHLEM MYOPATHY 1A; Myopathy, benign congenital, with contractures; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL6A1
Accession:NM_001848
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000278479 CLINVAR
  RCV000528678 CLINVAR
  RCV000725770 CLINVAR
  RCV003947913 CLINVAR
dbSNP (RS) rs368651226 CLINVAR
MedGen C3661900 CLINVAR
  CN029274 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL6A1 CLINVAR
OMIM 120220 CLINVAR
  158810 CLINVAR