PER1 A962P - 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:

PER1 A962P

(PER1 Ala962Pro)


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

  • G @ chr17:8046772: 85.6% (9200/10752) in EVS
  • G @ chr17:7987496: 52.5% (21/40) in GET-Evidence
  • Frequency shown in summary reports: 85.6% (9200/10752)

Publications
 

Genomes
 

 

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr17:8046772

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr17:8046772

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr17:8046772

 

 

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom G @ chr17:8046772

 

 

 

 

 

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr17:7987497

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr17:7987497

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr17:7987497

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr17:7987497

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr17:7987497

 

GS19670 - var-GS19670-1100-36-ASM
hom G @ chr17:7987497

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr17:7987497

 

Other external references
 

    dbSNP
  • rs2585405
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.212 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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