NAPSA A310T - 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!



(NAPSA Ala310Thr)

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

  • T @ chr19:50862768: 3.9% (422/10758) in EVS
  • T @ chr19:55554579: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.9% (422/10758)



hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr19:50862768



huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr19:50862768


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr19:50862768


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr19:50862768


GS19649 - var-GS19649-1100-36-ASM
het T @ chr19:55554580


GS20509 - var-GS20509-1100-36-ASM
het T @ chr19:55554580


Other external references

  • rs11670727
  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • Napsin-A precursor - Homo sapiens (Human)
    NAPSA. Synonyms: NAP1. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... A T: dbSNP rs11670727. VAR_024586. Hide | Top. SequencesHide. Sequence ...
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: NAPSA ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
  • UniProt: O96009
    AC O96009; Q8WWD9; DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot. ... GeneCards; GC19M055555; -. DR H-InvDB; HIX0015357; -. DR HGNC; HGNC:13395; NAPSA. ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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