DNAH5 T3791I - 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:

(See the latest version)

DNAH5 T3791I

(DNAH5 Thr3791Ile)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • A @ chr5:13737444: 9.2% (990/10758) in EVS
  • A @ chr5:13790443: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 9.2% (990/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr5:13737444

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr5:13737444

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr5:13737444

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr5:13790444

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr5:13790444

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr5:13790444

 

Added in this revision:

GS19648 - var-GS19648-1100-36-ASM
het A @ chr5:13790444

 

NA12156

 

NA12878

 

NA19129

 

Other external references
 

    dbSNP
  • rs17263496
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the DNAH5 gene
    Primary Ciliary Dyskinesia
    Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dysk
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DNAH5
    PolyPhen-2
  • Score: 0.995 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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