CAPN9 A102V - 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!



(CAPN9 Ala102Val)

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 @ chr1:230895279: 0.1% (6/10758) in EVS
  • T @ chr1:228961901: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (6/10758)



hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr1:230895279


GS18555 - var-GS18555-1100-36-ASM
het T @ chr1:228961902


GS18942 - var-GS18942-1100-36-ASM
het T @ chr1:228961902


Other external references

  • rs12562749
  • Score: 1.0 (probably damaging)
    Web search results (12 hits -- see all)
  • Calpain-9 - Homo sapiens (Human)
    ... OS=Homo sapiens GN=CAPN9 PE=1 SV=1 MPYLYRAPGPQAHPVPKDARITHSSGQSFEQMRQECLQRGTLFEDADFPASNSSLFYSER ... CAPN9. Synonyms: NCL4. Organism. Homo sapiens (Human) [Complete proteome] ...
  • Entry View
    Name=CAPN9; Synonyms=NCL4; Organism Source. Homo sapiens (Human). Organism Classification ... HGNC:1486; CAPN9. MIM. 606401; gene. PharmGKB. PA26066; -. ArrayExpress ...
  • CAPN9 Gene - GeneCards | CAN9 Protein | CAN9 Antibody
    summary for CAPN9: Calpains are a group of calcium-sensitive cysteine proteases that are ... CAPN9 Gene in genomic location: bands according to Ensembl, locations ...
  • Mooney Lab - MutDB
    CAPN9. Number of Transcript Variants. 1. Visualize Pathways. Using web services (slow) ... DBSNP:rs12562749. 101. A V. NCBI. In dbsnp. None. 0.11. SWISS:VAR_022188 ...
  • UniProt: O14815
    AC O14815; B1APS1; B1AQI0; Q9NS74; DT 16-JUN-2003, integrated into UniProtKB/Swiss-Prot. ... Full=Protein CG36; GN Name=CAPN9; Synonyms=NCL4; OS Homo sapiens ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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