TTC21A R1056L - GET-Evidence

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

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Curation:
Currentness:

TTC21A R1056L

(TTC21A Arg1056Leu)


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

  • T @ chr3:39178437: 4.2% (432/10386) in EVS
  • T @ chr3:39153440: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 4.2% (432/10386)

Publications
 

Genomes
 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr3:39178437

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr3:39178437

 

Other external references
 

    dbSNP
  • rs35934336
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (10 hits -- see all)
  • TTC21A Gene - GeneCards | TT21A Protein | TT21A Antibody
    TTC21A Gene in genomic location: bands according to Ensembl, ... phenotypic alleles for Ttc21a (no phenotypes) TTC21A for phenotypes About GeneDecksing ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=TTC21A
  • Tetratricopeptide repeat protein 21A - Homo sapiens (Human)
    TTC21A. Synonyms: STI2. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... R L: dbSNP rs35934336. Ref.2. VAR_032885. Natural variant. 1160. 1. S R: dbSNP rs34201693. ...
    www.uniprot.org/uniprot/Q8NDW8
  • Type II- 99%
    ... phosphorylation site ENPEP Q07075 R213Q 216 VAR_030359 RSK (0.959) Polymorphism (dbSNP: ... TTC21A Q8NDW8 R1055L 1058 VAR_032885 RSK (0.961) Polymorphism (dbSNP:rs35934336) BTK ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_99.txt
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt
  • UniProt: Q8NDW8
    AC Q8NDW8; A1L388; B4DYF6; B4DYJ3; Q6P5W8; Q8N7G5; Q8NA02; DT 26-JUN-2007, ... inducible protein 2; GN Name=TTC21A; Synonyms=STI2; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q8NDW8

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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