COL15A1 A442T - 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!


COL15A1 A442T

(COL15A1 Ala442Thr)

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr9:101767303: 0.2% (24/10758) in EVS
  • A @ chr9:100807123: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 0.2% (24/10758)



hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr9:101767303


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr9:101767303


GS18537 - var-GS18537-1100-36-ASM
het A @ chr9:100807124


GS19670 - var-GS19670-1100-36-ASM
hom A @ chr9:100807124


Other external references

  • rs16918128
  • Score: 0 (benign)
    Web search results (6 hits -- see all)
  • COL15A1 Gene - GeneCards | COFA1 Protein | COFA1 Antibody
    EntrezGene summary for COL15A1: This gene encodes the alpha chain of ... COL15A1 Gene in genomic location: bands according to Ensembl, locations according to (and ...
  • Collagen alpha-1(XV) chain precursor - Homo sapiens (Human)
    COL15A1. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... chain of type XV collagen (COL15A1) and comparison with the homologous COL18A1 ...
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs16918128*A442T. rs16919049. rs16919417*C64X. rs16919452*ZFH4 NM_024721 ...
  • 1306
    The Arabidopsis Thaliana Transcription Factors Database,Genomic Transcription Factors Information about Arabidopsis thaliana
  • UniProt: COFA1_HUMAN
    ... endostatin; DE Flags: Precursor; GN Name=COL15A1; OS Homo sapiens (Human). OC Eukaryota; ... RT chain of type XV collagen (COL15A1) and comparison with the homologous RT COL18A1 ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

Log in