PEX6 A809V - GET-Evidence

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

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PEX6 A809V

(PEX6 Ala809Val)

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 @ chr6:42933464: 8.1% (870/10758) in EVS
  • A @ chr6:43041441: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 8.1% (870/10758)





hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr6:42933464


huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr6:42933464


GS18502 - var-GS18502-1100-36-ASM
het A @ chr6:43041442


GS19239 - var-GS19239-1100-36-ASM
het A @ chr6:43041442


GS19240 - var-GS19240-1100-36-ASM
het A @ chr6:43041442


GS19700 - var-GS19700-1100-36-ASM
het A @ chr6:43041442


Other external references

  • rs35830695
    Web search results (5 hits -- see all)
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum ...
    2. PEX6, PEX26, PEX10, and PEX12 account for another 26% of all individuals with PBD, ZSS. ... mutations on the other PEX6 allele (A809V and I845T) [Raas-Rothschild et al 2002] ...
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
    PEX6 allele (T572I) and the mother was compound heterozygous for a ... (IVS10+2T>C) and two missense mutations on the other PEX6 allele (A809V and I845T) ...
  • doi:10.1086/339766
    A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype ... group C. PEX6 gene sequencing revealed mutations on both alleles, in the infant ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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