NAV1 Q937H - GET-Evidence

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

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NAV1 Q937H

(NAV1 Gln937His)

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

  • C @ chr1:201754444: 5.0% (535/10758) in EVS
  • C @ chr1:200021066: 2.4% (3/126) in GET-Evidence
  • Frequency shown in summary reports: 5.0% (535/10758)



hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr1:201754444


GS19700 - var-GS19700-1100-36-ASM
het C @ chr1:200021067


GS21767 - var-GS21767-1100-36-ASM
hom C @ chr1:200021067


Other external references

  • rs16849342
  • Score: 0.697 (possibly damaging)
    Web search results (5 hits -- see all)
  • NAV1 Gene - GeneCards | NAV1 Protein | NAV1 Antibody
    EntrezGene summary for NAV1: This gene belongs to the neuron navigator family and is ... NAV1 Gene in genomic location: bands according to Ensembl, locations ...
  • Neuron navigator 1 - Homo sapiens (Human)
    NAV1. Synonyms: KIAA1151, KIAA1213, POMFIL3, STEERIN1. Organism. Homo sapiens (Human) ... Q H: dbSNP rs16849342. VAR_032245. Natural variant. 1273. 1. S L: dbSNP rs2820289. Ref.2 ...
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs16849342*Q937H. rs16849439*AFP NM_001134 NP_001125*A570G*alpha ...
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: NAV1 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
  • UniProt: Q8NEY1
    AC Q8NEY1; A8MS88; Q5SVH1; Q5SVH2; Q5SVH3; Q5SVH7; Q5VUY9; Q8IVL2; AC Q96II1; Q9H7V9; ... Short=unc53H1; GN Name=NAV1; Synonyms=KIAA1151, KIAA1213, POMFIL3, ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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