ANO2 P143S - GET-Evidence

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

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ANO2 P143S

(ANO2 Pro143Ser)

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 @ chr12:6030301: 8.7% (884/10120) in EVS
  • Frequency shown in summary reports: 8.7% (884/10120)







hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr12:6030301




GS06994 - var-GS06994-1100-36-ASM
het A @ chr12:5900562


GS07357 - var-GS07357-1100-36-ASM
het A @ chr12:5900562


GS18526 - var-GS18526-1100-36-ASM
het A @ chr12:5900562


GS21767 - var-GS21767-1100-36-ASM
het A @ chr12:5900562


Other external references

  • rs3741901
    Web search results (3 hits -- see all)
  • ANO2 Gene - GeneCards | ANO2 Protein | ANO2 Antibody
    ANO2 Gene in genomic location: bands according to Ensembl, locations ... phenotypic alleles for Ano2 (no phenotypes) ANO2 for phenotypes About ...
  • Anoctamin-2 - Homo sapiens (Human)
    ANO2. Synonyms: C12orf3, TMEM16B. Organism. Homo sapiens (Human) [Complete proteome] ... 1. P S: dbSNP rs3741901. VAR_057286. Natural variant. 401. 1. M I: dbSNP rs17788563. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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