TTC21A R1056L - GET-Evidence

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

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TTC21A R1056L

(TTC21A Arg1056Leu)

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

  • 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)







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

  • rs35934336
    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 ...
  • 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. ...
  • 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 ...
  • 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. ...
  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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