GDF5 P166H - 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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GDF5 P166H

(GDF5 Pro166His)

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 @ chr20:34025212: 3.4% (366/10758) in EVS
  • T @ chr20:33488625: 5.7% (7/122) in GET-Evidence
  • Frequency shown in summary reports: 3.4% (366/10758)



GS18502 - var-GS18502-1100-36-ASM
hom T @ chr20:33488626


GS18517 - var-GS18517-1100-36-ASM
het T @ chr20:33488626


GS19020 - var-GS19020-1100-36-ASM
het T @ chr20:33488626


GS19239 - var-GS19239-1100-36-ASM
het T @ chr20:33488626


GS19240 - var-GS19240-1100-36-ASM
het T @ chr20:33488626


GS19700 - var-GS19700-1100-36-ASM
het T @ chr20:33488626


GS19701 - var-GS19701-1100-36-ASM
het T @ chr20:33488626


Other external references

  • rs61754581
  • GeneTests records for the GDF5 gene
    Brachydactyly Type A2
    Acromesomelic Dysplasia, Hunter-Thompson Type
    Brachydactyly Type C
    Chondrodysplasia, Grebe Type
    Fibular Hypoplasia and Complex Brachydactyly
  • Score: 0.969 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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