COL16A1 G745S - GET-Evidence

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

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COL16A1 G745S

(COL16A1 Gly745Ser)

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

  • T @ chr1:32149760: 0.5% (47/9660) in EVS
  • T @ chr1:31922346: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.5% (47/9660)




GS19703 - var-GS19703-1100-36-ASM
het T @ chr1:31922347


Other external references

  • rs34770879
    Web search results (4 hits -- see all)
  • Collagen alpha-1(XVI) chain precursor - Homo sapiens (Human)
    COL16A1. ORF Names: FP1572. Organism. Homo sapiens (Human) [Complete ... binds to a unique site within COL16A1 located close to its C-terminal end ...
  • COL16A1 Gene - GeneCards | COGA1 Protein | COGA1 Antibody
    EntrezGene summary for COL16A1: This gene encodes the alpha chain of ... COL16A1 Gene in genomic location: bands according to Ensembl, locations according to (and ...
  • SuppTable06_nsSnp_AK1.csv
    ... SCNN1D,R,P,rs11260579 chr1,1213248,G,C,88.88889,heterozygous,SCNN1D,E, ... heterozygous,COL16A1,G,S,rs34770879 chr1,31938082,G,T,52.63158,heterozygous,COL16A1,T,K,rs2228552 chr1, ...
  • UniProt: COGA1_HUMAN
    AC Q07092; Q16593; Q59F89; Q71RG9; DT 01-FEB-1995, integrated into UniProtKB/Swiss-Prot. ... CC to a unique site within COL16A1 located close to its C-terminal CC ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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