rs142296092 Rat Genome Database

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Variant: rs142296092 -  Homo sapiens

RGD ID: 11638862
RS ID: rs142296092
ClinVar ID: CV273991
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A2  LOC127895123  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 47,552,401
GRCh38 21 46,132,487
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001849.3:c.2995G>A
LRG_476t1:c.2995G>A
LRG_476:g.39369G>A
NG_008675.1:g.39369G>A
More... 		05/16/2022 missense 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:COL6A2
Accession:NM_001849
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 999
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHMKQFVPQFISQ
LQNEFYLDQVALSWRYGGLHFSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVI
TDGHVTGSPCGGIKLQAERAREEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKH
EAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPKGVPGFKGEKGEFGADGRKGA
PGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEAGSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNSG
APGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGSPGSDGPKGEKGDPGPEGPRGLAGEVGNKGAKGDRGLPGPRGPQGAL
GEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPGEKGEPGPRGPEGGRGDFGLKGEPGRKGEKGEPADP
GPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRETCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVIN
VVNRLGAIAKDPKSETGTRVGVVQYSHEGTFEAIQLDDERIDSLSSFKEAVKNLEWIAGGTWTPSALKFAYDRLIKESRR
QKTRVFAVVITDGRHDPRDDDLNLRALCDRDVTVTAIGIGDMFHEKHESENLYSIACDKPQQVRNMTLFSDLVAEKFIDD
MEDVLCPDPQIVCPDLPCQTELSVAQCTQRPVDIVFLLDGSERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALL
QFGGPGEQQVAFPLSHNLTAIHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHES
AHSMRKQNVVPTVLALGSDVDMDVLTTLSLGDRAAVFHKKDYDSLAQPGFFDRFIRWIC*

Gene Symbol:COL6A2
Accession:NM_058175
Location:INTRON

Gene Symbol:COL6A2
Accession:NM_058174
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000311292 CLINVAR
  RCV000800095 CLINVAR
  RCV002518099 CLINVAR
dbSNP (RS) rs142296092 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  CN029274 CLINVAR
NCBI Gene COL6A2 CLINVAR
OMIM 120240 CLINVAR
  158810 CLINVAR