RGD:10050690 Rat Genome Database

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Variant: RGD:10050690 -  Homo sapiens

RGD ID: 10050690
RS ID: rs137964147
ClinVar ID: CV192311
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A1  LOC127895109  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 47,402,652
GRCh38 21 45,982,738
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_475t1:c.202C>T
LRG_475:g.5990C>T
NG_008674.1:g.5990C>T
NC_000021.9:g.45982738C>T
More... 		10/17/2023 missense variant likely pathogenic|benign|likely benign|uncertain significance|no classifications from unflagged records AllHighlyPenetrant; BETHLEM MYOPATHY 1A; Collagen VI-related myopathy; Late onset scleroatonic familial myopathy (subtype); Myopathy, benign congenital, with contractures; none provided; Ullrich congenital muscular dystrophy 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL6A1
Accession:NM_001848
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVDKVKSFTKCFIDNLRDRYYRC
DRNLVWNAGALHYSDEVEIIQGLTRMPGGRDALKSSVDAVKYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGH
PLEGYKEPCGGLEDAVNEAKHLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTIVDMIK
NNVEQVCCSFECQPARGPPGLRGDPGFEGERGKPGLPGEKGEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSRGPKGYKG
EKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGPKGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEP
GPPGEKGEAGDEGNPGPDGAPGERGGPGERGPRGTPGTRGPRGDPGEAGPQGDQGREGPVGVPGDPGEAGPIGPKGYRGD
EGPPGSEGARGAPGPAGPPGDPGLMGERGEDGPAGNGTEGFPGFPGYPGNRGAPGINGTKGYPGLKGDEGEAGDPGDDNN
DIAPRGVKGAKGYRGPEGPQGPPGHQGPPGPDECEILDIIMKMCSCCECKCGPIDLLFVLDSSESIGLQNFEIAKDFVVK
VIDRLSRDELVKFEPGQSYAGVVQYSHSQMQEHVSLRSPSIRNVQELKEAIKSLQWMAGGTFTGEALQYTRDQLLPPSPN
NRIALVITDGRSDTQRDTTPLNVLCSPGIQVVSVGIKDVFDFIPGSDQLNVISCQGLAPSQGRPGLSLVKENYAELLEDA
FLKNVTAQICIDKKCPDYTCPITFSSPADITILLDGSASVGSHNFDTTKRFAKRLAERFLTAGRTDPAHDVRVAVVQYSG
TGQQRPERASLQFLQNYTALASAVDAMDFINDATDVNDALGYVTRFYREASSGAAKKRLLLFSDGNSQGATPAAIEKAVQ
EAQRAGIEIFVVVVGRQVNEPHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFHQTVSRKVALG*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000175702 CLINVAR
  RCV000653530 CLINVAR
  RCV000724794 CLINVAR
  RCV000754716 CLINVAR
  RCV000764263 CLINVAR
  RCV001139936 CLINVAR
dbSNP (RS) rs137964147 CLINVAR
MedGen C0410179 CLINVAR
  C3661900 CLINVAR
  CN029274 CLINVAR
  CN117976 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL6A1 CLINVAR
OMIM 120220 CLINVAR
  158810 CLINVAR
  254090 CLINVAR