SERPINA9 A42V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(SERPINA9 Ala42Val)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)




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

  • rs4905204
    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 ...
  • 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: ...
  • UniProt: Q86WD7
    AC Q86WD7; B4DVH4; B9ZVX3; Q2T9J2; Q6UWP9; Q86WD4; Q86WD5; Q86WD6; AC Q86YP6; ... Flags: Precursor; GN Name=SERPINA9; Synonyms=GCET1, SERPINA11; ORFNames=UNQ692 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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