SLC16A2 A224V - 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:

SLC16A2 A224V

(SLC16A2 Ala224Val)


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
 

    Web search results (1 hit -- see all)
  • OMIM: 300095
    ... MCT8 gene, resulting in an ala224-to-val (A224V) substitution in the second transmembrane domain of the ... 0005 ALLAN-HERNDON-DUDLEY SYNDROME SLC16A2, LEU397PRO In a boy with ...
    www.genome.jp/dbget-bin/www_bget?omim+300095

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in