DHODH A341V - 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:

DHODH A341V

(DHODH Ala341Val)


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

  • T @ chr16:72057421: 1.9% (197/10218) in EVS
  • T @ chr16:70614921: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 1.9% (197/10218)

Publications
 

Genomes
 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr16:72057421

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr16:70614922

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr16:70614922

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr16:70614922

 

Other external references
 

    dbSNP
  • rs61733129
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.998 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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