FGFR1 D133Del - 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:

FGFR1 D133Del

(FGFR1 133delDins)


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

  • - @ chr8:38405087: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (2/128)

Publications
 

Genomes
 

 

 

 

 

 

GS12004 - var-GS12004-1100-36-ASM
het - @ chr8:38405088

 

GS20502 - var-GS20502-1100-36-ASM
het - @ chr8:38405088

 

Other external references
 

    GeneTests
  • GeneTests records for the FGFR1 gene
    FGFR-Related Craniosynostosis
    Kallmann Syndrome
    FGFR1-Related Craniosynostosis
    Kallmann Syndrome 2
    Osteoglophonic Dysplasia
    Pfeiffer Syndrome Type 1, 2 and 3
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGFR1

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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