PLEKHM1P L94R - 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:

PLEKHM1P L94R

(PLEKHM1P Leu94Arg)


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

  • None available.

Publications
 

Genomes
 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom C @ chr17:62796759

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr17:62796759

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr17:62796759

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr17:62796759

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr17:62796759

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr17:62796759

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr17:62796759

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr17:62796759

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr17:62796759

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr17:62796759

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr17:62796759

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chr17:62796759

 

Other external references
 

    dbSNP
  • rs2074182
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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