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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

TMEM123 V86F

(TMEM123 Val86Phe)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

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)

Publications
 

Genomes
 

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
 

    dbSNP
  • rs11547915
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM123
  • Porimin precursor - Homo sapiens (Human)
    TMEM123. Synonyms: KCT3. ORF Names: PSEC0111, UNQ641/PRO1271. Organism ... TMEM123. MIM. 606356. gene. GenAtlas. Search... Phylogenomic databases. eggNOG. prNOG19913. ...
    www.uniprot.org/uniprot/Q8N131

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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