COL9A1 P824T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

COL9A1 P824T

(COL9A1 Pro824Thr)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr6:70942319: 2.1% (229/10758) in EVS
  • T @ chr6:70999039: 2.4% (3/126) in GET-Evidence
  • Frequency shown in summary reports: 2.1% (229/10758)

Publications
 

Genomes
 

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr6:70999040

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr6:70999040

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr6:70999040

 

Other external references
 

    dbSNP
  • rs34119578
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the COL9A1 gene
    Stickler Syndrome
    COL9A1-Related Multiple Epiphyseal Dysplasia
    COL9A1-Related Stickler Syndrome
    Multiple Epiphyseal Dysplasia, Dominant
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL9A1
    Web search results (296 hits -- see all)
  • A Short Isoform of Col9a1 Supports Alveolar Bone Repair ...
    In Col9a1-null mutant mice, there were considerable variations in alveolar bone wound ... g body weight) and rompun (0.824 mg/100 g body weight) for anesthesia, ...
    ajp.amjpathol.org/cgi/content/full/155/6/1993
  • BioPortfolio - KLHL32
    KLHL31 | KLHL32 | KLHL33 | KLHL34 | KLHL4 | KLHL5 | KLHL6 | KLHL7 | KLHL8 ... COL9A1 · 1297, 6q13, P20849 · COL9A1 · sc- 45635 · NM_078485 · 120210 · COL9A1 ...
    www.bioportfolio.com/search/KLHL32.html
  • Familial Osteoarthritis of the Hip Joint Associated with ...
    Br J Radiol 38:810–824 [PubMed] 2. Solomon L (1976) Patterns of ... loci for osteoarthritis-suggestive linkage of COL9A1 to female hip osteoarthritis. Rheumatology (Oxford) 39: ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1474113
  • Homology Map Table for mouse chromosome 1
    8:50,824,597-51,705,427 (+) 86883. 1:8,781,724-8,782,310 ... Col9a1. COL9A1. 6:70,925,743-71,012,786 (-) 55608. 1:24,264,522-24,594,276 (-) Col19a1 ...
    www.ncbi.nlm.nih.gov/projects/homology/maps/mouse/chr1
  • Supplementary Table 6 - Download Excel file (9.7 MB )
    Col9a1. 637.348. 604.565. 622.185. 2940.246. 2988.923. 2903.779. 4.73846. 0. 0 ... 407.824. 953.794. 953.961. 812.286. 1.77981. 0. 0.00098. 180. 1422462_at. Ube2t. 173.942. 183.688 ...
    nature.com/nature/journal/v463/n7279/extref/...
  • module_168_full_genes.html
    COL9A1. 6.71443e-09. collagen, type IX, alpha 1.MED; DJ149L1.1.2.alpha 1 type IX collagen ... 824. CAPN2. 1.03907e-08. calpain 2, (mII) large subunit.mCANP; CANPL2; CANPml.calpain 2, ...
    robotics.stanford.edu/~erans/.../module_168_full_genes.html
  • module_222_full_genes.html
    824. CAPN2. 1.41438e-07. calpain 2, (mII) large subunit.mCANP; CANPL2; CANPml.calpain 2, ... COL9A1. 2.17118e-07. collagen, type IX, alpha 1.MED; DJ149L1.1.2.alpha 1 type IX collagen ...
    ai.stanford.edu/~erans/cancer/.../module_222_full_genes.html
  • REPORT Familial Osteoarthritis of the Hip Joint Associated ...
    genes from linkage—COL2A1, COL9A1-A3 (MIMs 120210, 120260, and 120270) ... Br J Radiol 38:810–824. 2. Solomon L (1976) Patterns of osteoarthritis ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • G.A.M.E.S.: chromosome 6
    COL9A1. ctgatttggatgatatatgta. gcatctatataactttcattc. 68.72. COL9A1. DINUC ... 122.824. AFMb328wf1. DINUC. 6. 0.94. HEX. 99. Z53632. 292. E1. E2. OK. D6S1648. gcaatctcatccatgtcca ...
    www-gene.cimr.cam.ac.uk/MSgenetics/GAMES/chrom6.html
  • A de novo Proximal 6q Deletion Confirmed by Array Comparative ...
    arr 6q13q16.2(73,378,824-99,824,130), demonstrating higher resolution than the conventional cyto- genetic ... genes for the alpha 1 chain of type IX collagen (COL9A1) ...
    kslm.org/sub/down.php?Year=2010&pagee=84

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in