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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

GDF5 P166H

(GDF5 Pro166His)


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

  • 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)

Publications
 

Genomes
 

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
 

    dbSNP
  • rs61754581
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • 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
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GDF5
    PolyPhen-2
  • 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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