HPS1 P491R - 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:

HPS1 P491R

(HPS1 Pro491Arg)


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

  • C @ chr10:100183570: 9.6% (1029/10756) in EVS
  • C @ chr10:100173559: 13.7% (17/124) in GET-Evidence
  • Frequency shown in summary reports: 9.6% (1029/10756)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr10:100183570

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr10:100183570

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr10:100183570

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr10:100183570

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr10:100183570

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr10:100183570

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr10:100183570

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr10:100183570

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr10:100183570

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr10:100173560

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr10:100173560

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr10:100173560

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr10:100173560

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr10:100173560

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr10:100173560

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chr10:100173560

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr10:100173560

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr10:100173560

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr10:100173560

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr10:100173560

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr10:100173560

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr10:100173560

 

Other external references
 

    dbSNP
  • rs2296434
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.983 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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