CHRND S268F - 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!



(CHRND Ser268Phe)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • None available.



Other external references

  • GeneTests records for the CHRND gene
    CHRND-Related Congenital Myasthenic Syndrome
    CHRND-Related Multiple Pterygium Syndrome, Lethal Type
    Congenital Myasthenic Syndromes
    Web search results (8 hits -- see all)
  • CHRND mutation causes a congenital myasthenic syndrome by ...
    CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the ... is reported for both the slow-channel mutation CHRND S268F and the ...
  • CHRND mutation causes a congenital myasthenic syndrome by ...
    gene (CHRND) in a patient with sporadic congenital myasthenic syndrome (CMS) ... for both the slow-channel mutation CHRND S268F and. the homozygous fast-channel mutation ...
  • OMIM: 100720
    ... 8 of the CHRND gene, resulting in a ser268-to-phe (S268F) substitution in the twelfth residue of the delta ... In addition, the mutant CHRND protein showed abnormal association ...
  • Table S2.
    Amino Acid change(s) C* M** 1. CHRNE. receptor deficiency. 70insG.† E26X. Yes. No. 2. CHAT ... CHRND. possible receptor deficiency. T706C.‡ C236R. Yes. Yes. 9. CHRND. slow channel. C803T.† S268F ...
  • Myasthenic Syndromes
    δS268F mutation4. Widening of synaptic cleft. Accumulation of debris in synaptic cleft ... E381K (Heterozygous with null mutation)26. CHRND mutant protein: ...
  • • review article •
    B) WT mouse and δS268F AChR single-channel currents recorded at low ... C) Kinetics of activation of WT and δS268F AChR at high ACh concentrations. ...
  • WUSTL - Sindromi miasteniche
    Delta subunità degli AChR (CHRND) l Cromosoma 2q33-q34. Tipi di mutazioni: Le mutazioni ... Sindrome dei canali lenti: δS268F; Dominante. Distruzione degli AChR clustering: E381K ...
  • Molekulargenetische Analyse von postsynaptischen
    CHRNB1, CHRND und CHRNE) [9] sowie für die embryonale ˻ -Untereinheit ... CHRND, CHRNA1, CHAT, DOK-7 oder COLQ (12,95% des Gesamtkollektivs) ...

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

Log in