NEB H1991Y - 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:

NEB H1991Y

(NEB His1991Tyr)


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 @ chr2:152515683: 3.9% (375/9546) in EVS
  • A @ chr2:152223928: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 3.9% (375/9546)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr2:152515683

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr2:152515683

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr2:152515683

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr2:152515683

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr2:152515683

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr2:152515683

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr2:152515683

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr2:152223929

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr2:152223929

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr2:152223929

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr2:152223929

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr2:152223929

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr2:152223929

 

Other external references
 

    dbSNP
  • rs75807392
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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