SARDH A333V - 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:

SARDH A333V

(SARDH Ala333Val)


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

  • A @ chr9:136584082: 0.7% (72/10758) in EVS
  • A @ chr9:135573902: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 0.7% (72/10758)

Publications
 

Genomes
 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr9:135573903

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr9:135573903

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr9:135573903

 

Other external references
 

    dbSNP
  • rs35664470
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (1 hit -- see all)
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs7406162) ALG6 Q9Y672 A333V 331 VAR_013443 STE20 (0.886) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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