TMEM81 F100S - 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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Curation:
Currentness:

TMEM81 F100S

(TMEM81 Phe100Ser)


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

  • 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)

Publications
 

Genomes
 

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
 

    dbSNP
  • rs16855059
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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: ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=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 ...
    www.uniprot.org/uniprot/Q6P7N7
  • 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. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q6P7N7

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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