RSPH4A R556H - 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)

RSPH4A R556H

(RSPH4A Arg556His)


You are viewing an old version of this page that was saved on November 29, 2012 at 4:24am 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 @ chr6:116950734: 16.7% (1793/10758) in EVS
  • A @ chr6:117057426: 17.2% (22/128) in GET-Evidence
  • Frequency shown in summary reports: 16.7% (1793/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr6:116950734

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr6:116950734

 

Added in this revision:

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr6:116950734

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr6:116950734

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr6:116950734

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr6:116950734

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr6:116950734

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr6:117057427

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr6:117057427

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr6:117057427

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr6:117057427

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr6:117057427

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr6:117057427

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr6:117057427

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr6:117057427

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr6:117057427

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr6:117057427

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chr6:117057427

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr6:117057427

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr6:117057427

 

Other external references
 

    dbSNP
  • rs6927567
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the RSPH4A gene
    Primary Ciliary Dyskinesia
    Primary Ciliary Dyskinesia11: RSPH4A-Related Primary Ciliary Dys
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RSPH4A
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in