DHCR7 M1V - 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!

Curation:
Currentness:

DHCR7 M1V

(DHCR7 Met1Val)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.403 (possibly damaging)
    Web search results (1 hit -- see all)
  • Human connexin26 (GJB2) deafness mutations affect the ...
    Human connexin26 (GJB2) deafness mutations affect the function of gap junction c ... case of M34T and R127H, whereas M1V, L90P, F161S, P173R and R184P mutants did not show ...
    www.ionchannels.org/showabstract.php?pmid=12189493

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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