TMEM123 V86F - 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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TMEM123 V86F

(TMEM123 Val86Phe)

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 @ chr11:102272839: 4.9% (496/10156) in EVS
  • A @ chr11:101778048: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 4.9% (496/10156)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr11:102272839




huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr11:102272839


GS10851 - var-GS10851-1100-36-ASM
het A @ chr11:101778049


GS18555 - var-GS18555-1100-36-ASM
het A @ chr11:101778049


Other external references

  • rs11547915
  • Score: 0.275 (possibly damaging)
    Web search results (2 hits -- see all)
  • TMEM123 Gene - GeneCards | PORIM Protein | PORIM Antibody
    TMEM123 Gene in genomic location: bands according to Ensembl, locations ... for TMEM123. R&D Systems Antibodies for TMEM123 (Porimin) Antibodies ...
  • Porimin precursor - Homo sapiens (Human)
    TMEM123. Synonyms: KCT3. ORF Names: PSEC0111, UNQ641/PRO1271. Organism ... TMEM123. MIM. 606356. gene. GenAtlas. Search... Phylogenomic databases. eggNOG. prNOG19913. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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