ALPL Y263H - 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.

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Curation:
Currentness:

ALPL Y263H

(ALPL Tyr263His)


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

  • C @ chr1:21894735: 16.3% (1757/10758) in EVS
  • C @ chr1:21767321: 19.8% (25/126) in GET-Evidence
  • Frequency shown in summary reports: 16.3% (1757/10758)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr1:21894735

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr1:21894735

 

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr1:21767322

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr1:21767322

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr1:21767322

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr1:21767322

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr1:21767322

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr1:21767322

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr1:21767322

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr1:21767322

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr1:21767322

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr1:21767322

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr1:21767322

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr1:21767322

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr1:21767322

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr1:21767322

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr1:21767322

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr1:21767322

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr1:21767322

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr1:21767322

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr1:21767322

 

Other external references
 

    dbSNP
  • rs3200254
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (10 hits -- see all)
  • Laboratoire SESEP - Table des polymorphismes
    p.Y263H. Henthorn et al. 1992. 0.33. 73. IVS7. c.793-31C>T. Mornet E 2000 ... ALPL gene poymorphisms by clicking this link. See the ENSembl site for other ALPL gene ...
    www.sesep.uvsq.fr/03_hypo_polymorphismes.php
  • AceView: Gene:ALPL, 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=ALPL
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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