TMEM81 F100S - GET-Evidence

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

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TMEM81 F100S

(TMEM81 Phe100Ser)

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

  • G @ chr1:205053150: 10.3% (1103/10758) in EVS
  • G @ chr1:203319772: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 10.3% (1103/10758)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr1:205053150



hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr1:205053150


GS06994 - var-GS06994-1100-36-ASM
het G @ chr1:203319773


GS18501 - var-GS18501-1100-36-ASM
het G @ chr1:203319773


GS19239 - var-GS19239-1100-36-ASM
het G @ chr1:203319773


GS19240 - var-GS19240-1100-36-ASM
het G @ chr1:203319773


GS19648 - var-GS19648-1100-36-ASM
het G @ chr1:203319773


Other external references

  • rs16855059
  • Score: 0.986 (probably damaging)
    Web search results (3 hits -- see all)
  • TMEM81 Gene - GeneCards | TMM81 Protein | TMM81 Antibody
    TMEM81 Gene in genomic location: bands according to Ensembl, locations according to (and ... TMEM81 for ontologies About GeneDecksing. Antibodies for TMEM81: ...
  • Transmembrane protein 81 precursor - Homo sapiens (Human)
    TMEM81. ORF Names: UNQ2788/PRO7178. Organism. Homo sapiens (Human) [Complete proteome] ... F S: dbSNP rs16855059. VAR_032354. Hide | Top. SequencesHide. Sequence ...
  • UniProt: Q6P7N7
    DT 05-JUL-2004, sequence version 1. DT 02-MAR-2010, entry version 60. DE RecName: ... GC01M203318; -. DR H-InvDB; HIX0028686; -. DR HGNC; HGNC:32349; TMEM81. ...

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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