RGD:11638359 Rat Genome Database

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Variant: RGD:11638359 -  Homo sapiens

RGD ID: 11638359
RS ID: rs375430758
ClinVar ID: CV274432
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL6A2  LOC127895123  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 47,552,286
GRCh38 21 46,132,372
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_476t1:c.2880G>A
LRG_476:g.39254G>A
NG_008675.1:g.39254G>A
NC_000021.9:g.46132372G>A
More... 		03/01/2019 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; BETHLEM MYOPATHY 1A; Collagen VI-related myopathy; Myopathy, benign congenital, with contractures
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL6A2
Accession:NM_001849
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 960
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHMKQFVPQFISQ
LQNEFYLDQVALSWRYGGLHFSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVI
TDGHVTGSPCGGIKLQAERAREEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKH
EAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPKGVPGFKGEKGEFGADGRKGA
PGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEAGSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNSG
APGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGSPGSDGPKGEKGDPGPEGPRGLAGEVGNKGAKGDRGLPGPRGPQGAL
GEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPGEKGEPGPRGPEGGRGDFGLKGEPGRKGEKGEPADP
GPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRETCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVIN
VVNRLGAIAKDPKSETGTRVGVVQYSHEGTFEAIQLDDERIDSLSSFKEAVKNLEWIAGGTWTPSALKFAYDRLIKESRR
QKTRVFAVVITDGRHDPRDDDLNLRALCDRDVTVTAIGIGDMFHEKHESENLYSIACDKPQQVRNMTLFSDLVAEKFIDD
MEDVLCPDPQIVCPDLPCQTELSVAQCTQRPVDIVFLLDGSERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALL
QFGGPGEQQVAFPLSHNLTAIHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHES
AHSMRKQNVVPTVLALGSDVDMDVLTTLSLGDRAAVFHEKDYDSLAQPGFFDRFIRWIC*

Gene Symbol:COL6A2
Accession:NM_058174
Location:INTRON

Gene Symbol:COL6A2
Accession:NM_058175
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18825676   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000302152 CLINVAR
  RCV000653637 CLINVAR
  RCV001141918 CLINVAR
dbSNP (RS) rs375430758 CLINVAR
MedGen CN029274 CLINVAR
  CN117976 CLINVAR
  CN169374 CLINVAR
NCBI Gene COL6A2 CLINVAR
OMIM 120240 CLINVAR
  158810 CLINVAR