CYP21A2 V236E - GET-Evidence

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

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Curation:
Currentness:

CYP21A2 V236E

(CYP21A2 Val236Glu)


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 (9 hits -- see all)
  • Validation and Clinical Application of a Locus-Specific ...
    The CYP21A2 gene is located on chromosome 6p21.3, in a region containing genes ... minor differences from the active CYP21A2 gene render the CYP21A gene inactive. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1867523/?tool=pmcentrez
  • Validation and Clinical Application of a Locus-Specific ...
    The CYP21A2 gene is located on chromosome 6p21.3, in a region containing genes ... minor differences from the active CYP21A2 gene render the CYP21A gene inactive. ...
    jmd.amjpathol.org/cgi/content/full/7/2/236
  • Validation and Clinical Application of a Locus- Specific ...
    of CYP21A2 with CYP21A is thought to predispose the. locus to meiotic crossovers between ... ciency), 2 patients carrying a CYP21A2 mutation, and 1. wild-type individual (kindly ...
    jmd.amjpathol.org/cgi/reprint/7/2/236.pdf
  • Congenital Adrenal Hyperplasia
    most common mutations of CYP21A2: P30L, In2G, G110del8, I172N, exon 6 cluster mutation (1235N, V236E, M238K) ... approximately 90% of the CYP21A2 defects that can result in ...
    www.nicholsinstitute.com/Documents/Library/CF1703-HS.pdf
  • Congenital Adrenal Hyperplasia: Laboratory Diagnosis
    (CYP21A2) (CYP21A2) Deoxycorticosterone. 11-Deoxycortisol. Testosterone ... copy of CYP21A2 and the second allele contains a non-functional copy of CYP21A2 ...
    www.nicholsinstitute.com/Documents/Library/TG1750-HS.pdf
  • cah due to 21 hsd
    CYP21A2 mutations in Portuguese patients with congenital adrenal ... Low frequency of the CYP21A2 deletion in ethnic Chinese. 88 reads. Congenital Adrenal ...
    www.scribd.com/doc/6928882/cah-due-to-21-hsd

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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