ATP10D N720S - 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)

ATP10D N720S

(ATP10D Asn720Ser)


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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

  • G @ chr4:47560015: 4.8% (513/10758) in EVS
  • G @ chr4:47254771: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 4.8% (513/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr4:47560015

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr4:47254772

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr4:47254772

 

Added in this revision:

GS18942 - var-GS18942-1100-36-ASM
het G @ chr4:47254772

 

Other external references
 

    dbSNP
  • rs34169638
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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