TTLL10 V249A - 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:

TTLL10 V249A

(TTLL10 Val249Ala)


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

  • C @ chr1:1116231: 17.0% (1801/10590) in EVS
  • C @ chr1:1106093: 17.1% (13/76) in GET-Evidence
  • Frequency shown in summary reports: 17.0% (1801/10590)

Publications
 

Genomes
 

 

 

 

 

 

hu604D39

 

 

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr1:1106094

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr1:1106094

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr1:1106094

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr1:1106094

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr1:1106094

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr1:1106094

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr1:1106094

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr1:1106094

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr1:1106094

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr1:1106094

 

Other external references
 

    dbSNP
  • rs13374146
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (1 hit -- see all)
  • Inactive polyglycylase TTLL10 - Homo sapiens (Human)
    ... Inactive polyglycylase TTLL10 OS=Homo sapiens GN=TTLL10 PE=1 SV ... TTLL10. Alternative name(s): Tubulin--tyrosine ligase-like protein 10. Gene names. Name: TTLL10. Organism ...
    www.uniprot.org/uniprot/Q6ZVT0

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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