NID2 P529S - 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.

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NID2 P529S

(NID2 Pro529Ser)

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 @ chr14:52509063: 2.2% (242/10758) in EVS
  • Frequency shown in summary reports: 2.2% (242/10758)



hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr14:52509063


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr14:52509063


Other external references

  • rs17831525
  • Score: 0.871 (probably damaging)
    Web search results (4 hits -- see all)
  • Nidogen-2 precursor - Homo sapiens (Human)
    ... OS=Homo sapiens GN=NID2 PE=1 SV=3 MEGDRVAGRPVLSSLPVLLLLPLLMLRAAALHPDELFPHGESWGDQLLQEGDDESSAVVK ... NID2. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ...
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs17831525*P529S. rs17832998*A464V. rs17833992*V1315L. rs17838158*GSTM4 ...
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: NID2 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
  • UniProt: Q14112
    AC Q14112; A8K6I7; B4DU19; O43710; DT 15-DEC-1998, integrated into ... Osteonidogen; DE Flags: Precursor; GN Name=NID2; OS Homo sapiens (Human). OC Eukaryota; ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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