NDUFS7 P23L - 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:

NDUFS7 P23L

(NDUFS7 Pro23Leu)


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 @ chr19:1388538: 53.8% (5784/10750) in EVS
  • T @ chr19:1339537: 37.5% (39/104) in GET-Evidence
  • Frequency shown in summary reports: 53.8% (5784/10750)

Publications
 

Genomes
 

 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr19:1388538

 

 

 

 

 

 

 

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr19:1388538

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr19:1388538

 

 

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr19:1388538

 

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chr19:1339538

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr19:1339538

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr19:1339538

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr19:1339538

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr19:1339538

 

GS18504 - var-GS18504-1100-36-ASM
hom T @ chr19:1339538

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr19:1339538

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr19:1339538

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr19:1339538

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr19:1339538

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr19:1339538

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr19:1339538

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr19:1339538

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr19:1339538

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr19:1339538

 

GS19834 - var-GS19834-1100-36-ASM
hom T @ chr19:1339538

 

GS20502 - var-GS20502-1100-36-ASM
hom T @ chr19:1339538

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr19:1339538

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr19:1339538

 

Other external references
 

    dbSNP
  • rs1142530
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the NDUFS7 gene
    Leigh Syndrome (nuclear DNA mutation)
    Mitochondrial Respiratory Chain Complex I Deficiency (nuclear ge
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFS7
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (14 hits -- see all)
  • AceView: Gene:NDUFS7, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=NDUFS7
  • SNP Name
    5' flanking (more than 2 kb) 0.66. APOD. 3. rs1800557. nonsynonymous. A713V. 0.92. APP. 21 ... P23L. NDUFS7. 19. rs3133266. intron. 0.75. NDUFS8. 11. rs3115545. intron. 0.74 ...
    biomedcentral.com/.../supplementary/1471-2156-8-43-s1.doc
  • Parkinson Disease Knowledgebase
    NDUFS7. Literature. Mellick GD;Silburn PA;Prince JA;Brookes AJ. A novel ... Variation Impact. Negative Result. Variation. p.P23L. c.88C>T. RefSeq ID. rs1142530. suisheng ...
    datam.i2r.a-star.edu.sg/mdpd/detail.php?symbol=NDUFS7&sec=1

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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