CHAT R561Q - GET-Evidence

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

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(CHAT Arg561Gln)

Short summary

Reported to cause severe autosomal recessive osteopetrosis

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 @ chr10:50863188: 0.8% (85/10758) in EVS
  • A @ chr10:50533193: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (85/10758)


Besbas N, Draaken M, Ludwig M, Deren O, Orhan D, Bilginer Y, Ozaltin F. A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis. Eur J Pediatr. 2009 Dec;168(12):1449-54. Epub 2009 Feb 24. PubMed PMID: 19238435.



hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr10:50863188


GS07357 - var-GS07357-1100-36-ASM
het A @ chr10:50533194


GS19700 - var-GS19700-1100-36-ASM
het A @ chr10:50533194


Other external references

  • rs80097077
  • Score: 1.0 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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