TCOF1 V887A - GET-Evidence

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

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(TCOF1 Val887Ala)

You are viewing an old version of this page that was saved on November 29, 2012 at 2:24am by Genome Importing Robot.

Short summary


Variant evidence
Computational 1

Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism p value: 0.999964; protein features (might be) affected.
GVGD: GV 152.17; GD 0.00; Class C0
Multi-alignment of Q13428.3 Treacher Collins-Franceschetti syndrome 1, isoform CRA_g [Homo sapiens] with: XP_002816130.1 [Pongo abelii] NP_001035041.1 [Macaca mulatta] XP_001503770.1 [Equus caballus] XP_591291.4 [Bos taurus] XP_002710210.1 [Oryctolagus cuniculus] NP_001003057.1 [Canis lupus familiaris] XP_002918190.1 [Ailuropoda melanoleuca]

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

  • C @ chr5:149759096: 19.2% (2069/10758) in EVS
  • C @ chr5:149739288: 15.9% (20/126) in GET-Evidence
  • Frequency shown in summary reports: 19.2% (2069/10758)



Added in this revision:

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr5:149759096




hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr5:149759096


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr5:149759096



GS06985 - var-GS06985-1100-36-ASM
het C @ chr5:149739289


GS06994 - var-GS06994-1100-36-ASM
het C @ chr5:149739289


GS07357 - var-GS07357-1100-36-ASM
het C @ chr5:149739289


GS18501 - var-GS18501-1100-36-ASM
het C @ chr5:149739289


GS18502 - var-GS18502-1100-36-ASM
het C @ chr5:149739289


GS18940 - var-GS18940-1100-36-ASM
het C @ chr5:149739289


GS19017 - var-GS19017-1100-36-ASM
het C @ chr5:149739289


GS19025 - var-GS19025-1100-36-ASM
het C @ chr5:149739289


GS19026 - var-GS19026-1100-36-ASM
het C @ chr5:149739289


GS19129 - var-GS19129-1100-36-ASM
het C @ chr5:149739289


GS19701 - var-GS19701-1100-36-ASM
het C @ chr5:149739289


GS21767 - var-GS21767-1100-36-ASM
het C @ chr5:149739289


Other external references

  • rs7713638
    Web search results (0 hits -- see all)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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