SERPINA9 A42V - 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:

SERPINA9 A42V

(SERPINA9 Ala42Val)


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 @ chr14:94936107: 4.9% (495/10082) in EVS
  • A @ chr14:94005859: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 4.9% (495/10082)

Publications
 

Genomes
 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr14:94936107

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr14:94936107

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr14:94936107

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr14:94936107

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr14:94005860

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr14:94005860

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr14:94005860

 

Other external references
 

    dbSNP
  • rs4905204
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (3 hits -- see all)
  • Serpin A9 precursor - Homo sapiens (Human)
    SERPINA9. Synonyms: GCET1, SERPINA11. ORF Names: UNQ692/PRO1337 ... 1. A V: dbSNP rs4905204. VAR_047344. Natural variant. 218. 1. P L: dbSNP rs17090921. Ref.3 ...
    www.uniprot.org/uniprot/Q86WD7
  • SERPINA9 Gene - GeneCards | SPA9 Protein | SPA9 Antibody
    SERPINA9 Gene in genomic location: bands according to Ensembl, locations according to ... SERPINA9 for ontologies About GeneDecksing. Antibodies for SERPINA9: ...
    genecards.org/cgi-bin/carddisp.pl?gene=SERPINA9&...&snp=111
  • UniProt: Q86WD7
    AC Q86WD7; B4DVH4; B9ZVX3; Q2T9J2; Q6UWP9; Q86WD4; Q86WD5; Q86WD6; AC Q86YP6; ... Flags: Precursor; GN Name=SERPINA9; Synonyms=GCET1, SERPINA11; ORFNames=UNQ692 ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q86WD7

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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