RGD:11623863 Rat Genome Database

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Variant: RGD:11623863 -  Homo sapiens

RGD ID: 11623863
RS ID: rs34911725
ClinVar ID: CV336260
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL9A3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 61,472,039
GRCh38 20 62,840,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001853.3:c.2010C>T
LRG_1253p1:p.Ala670=
NG_016353.1:g.28626C>T
NC_000020.11:g.62840687C>T
More... 		11/18/2020 synonymous variant benign|likely benign Intervertebral disc disease; Intervertebral disc disorder; Lumbar disk degenerative disorder; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL9A3
Accession:XM_047439894
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 483
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGFKGPTGYKGEQGEVGKDGEKGDPGPPGPAGLPGSVGLQGPRGLRGLPGPLGPPGDRGPIGFRGPPGIPGAPGKAGDR
GERGPEGFRGPKGDLGRPGPKGTPGVAGPSGEPGMPGKDGQNGVPGLDGQKGEAGRNGAPGEKGPNGLPGLPGRAGSKGE
KGERGRAGELGEAGPSGEPGVPGDAGMPGERGEAGHRGSAGALGPQGPPGAPGVRGFQGQKGSMGDPGLPGPQGLRGDVG
DRGPGGAAGPKGDQGIAGSDGLPGDKGELGPSGLVGPKGESGSRGELGPKGTQGPNGTSGVQGVPGPPGPLGLQGVPGVP
GITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTG
ELGDPGPRGNQGDRGDKGAAGAGLDGPEGDQGPQGPQGVPGTSKDGQDGAPGEPGPPGDPGLPGAIGAQGTPGICDTSAC
QGAVLGGVGEKSGSRSS*

Gene Symbol:COL9A3
Accession:NM_001853
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 670
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGPRACAPLLLLLLLGELLAAAGAQRVGLPGPPGPPGPPGKPGQDGIDGEAGPPGLPGPPGPKGAPGKPGKPGEAGLPG
LPGVDGLTGRDGPPGPKGAPGERGSLGPPGPPGLGGKGLPGPPGEAGVSGPPGGIGLRGPPGPSGLPGLPGPPGPPGPPG
HPGVLPEGATDLQCPSICPPGPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGDPGPPGPAGLPGSVGLQGPRGLRGLPGPL
GPPGDRGPIGFRGPPGIPGAPGKAGDRGERGPEGFRGPKGDLGRPGPKGTPGVAGPSGEPGMPGKDGQNGVPGLDGQKGE
AGRNGAPGEKGPNGLPGLPGRAGSKGEKGERGRAGELGEAGPSGEPGVPGDAGMPGERGEAGHRGSAGALGPQGPPGAPG
VRGFQGQKGSMGDPGLPGPQGLRGDVGDRGPGGAAGPKGDQGIAGSDGLPGDKGELGPSGLVGPKGESGSRGELGPKGTQ
GPNGTSGVQGVPGPPGPLGLQGVPGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAG
PPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGNQGDRGDKGAAGAGLDGPEGDQGPQGPQGVPGTSKDGQDGAPGE
PGPPGDPGLPGAIGAQGTPGICDTSACQGAVLGGVGEKSGSRSS*

Gene Symbol:COL9A3
Accession:XM_047439893
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 729
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPRWPGSAGAAASSGSTRGPLFPPPEGGGGHTARGRRAPPEALGLTEESGGRRRPRSRSGPGRRGRRVRPTGAPALLNE
FSPFQRVGLPGPPGPPGPPGKPGQDGIDGEAGPPGLPGPPGPKGAPGKPGKPGEAGLPGLPGVDGLTGRDGPPGPKGAPG
ERGSLGPPGPPGLGGKGLPGPPGEAGVSGPPGGIGLRGPPGPSGLPGLPGPPGPPGPPGHPGVLPEGATDLQCPSICPPG
PPGPPGMPGFKGPTGYKGEQGEVGKDGEKGDPGPPGPAGLPGSVGLQGPRGLRGLPGPLGPPGDRGPIGFRGPPGIPGAP
GKAGDRGERGPEGFRGPKGDLGRPGPKGTPGVAGPSGEPGMPGKDGQNGVPGLDGQKGEAGRNGAPGEKGPNGLPGLPGR
AGSKGEKGERGRAGELGEAGPSGEPGVPGDAGMPGERGEAGHRGSAGALGPQGPPGAPGVRGFQGQKGSMGDPGLPGPQG
LRGDVGDRGPGGAAGPKGDQGIAGSDGLPGDKGELGPSGLVGPKGESGSRGELGPKGTQGPNGTSGVQGVPGPPGPLGLQ
GVPGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQLAAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPG
YRGPTGELGDPGPRGNQGDRGDKGAAGAGLDGPEGDQGPQGPQGVPGTSKDGQDGAPGEPGPPGDPGLPGAIGAQGTPGI
CDTSACQGAVLGGVGEKSGSRSS*

Gene Symbol:COL9A3
Accession:XM_017027666
Location:INTRON

Gene Symbol:COL9A3
Accession:XM_047439895
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000899369 CLINVAR
  RCV002502309 CLINVAR
dbSNP (RS) rs34911725 CLINVAR
MedGen C1832998 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL9A3 CLINVAR
OMIM 120270 CLINVAR
  600969 CLINVAR
  603932 CLINVAR
SNOMED CT 36427004 CLINVAR