AK123744 R200H - 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:

AK123744 R200H

(AK123744 Arg200His)


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 @ chr8:70733866: 24.6% (31/126) in GET-Evidence
  • Frequency shown in summary reports: 24.6% (31/126)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr8:70571313

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr8:70571313

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr8:70571313

 

 

 

 

 

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr8:70571313

 

 

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr8:70733867

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr8:70733867

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr8:70733867

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr8:70733867

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr8:70733867

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr8:70733867

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr8:70733867

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr8:70733867

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr8:70733867

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr8:70733867

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr8:70733867

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr8:70733867

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr8:70733867

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr8:70733867

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr8:70733867

 

GS19670 - var-GS19670-1100-36-ASM
hom A @ chr8:70733867

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr8:70733867

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr8:70733867

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr8:70733867

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr8:70733867

 

Other external references
 

    dbSNP
  • rs3802278
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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