ABCA12 I1409V - 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:

ABCA12 I1409V

(ABCA12 Ile1409Val)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr2:215848528

 

Other external references
 

    GeneTests
  • GeneTests records for the ABCA12 gene
    Autosomal Recessive Congenital Ichthyosis
    ABCA12-Related Autosomal Recessive Congenital Ichthyosis
    Harlequin Ichthyosis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA12

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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