EPPK1 R2215S - 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:

EPPK1 R2215S

(EPPK1 Arg2215Ser)


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
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het CGA @ chr8:144940777

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het CGA @ chr8:144940777

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het CGA @ chr8:144940777

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het CGA @ chr8:144940777

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het CGA @ chr8:144940777

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het CGA @ chr8:144940777

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het CGA @ chr8:144940777

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het CGA @ chr8:144940777

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het CGA @ chr8:144940777

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het CGA @ chr8:144940777

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het CGA @ chr8:144940777

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het CGA @ chr8:144940777

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het CGA @ chr8:144940777

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het CGA @ chr8:144940777

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het CGA @ chr8:144940777

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het CGA @ chr8:144940777

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het CGA @ chr8:144940777

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het CGA @ chr8:144940777

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het CGA @ chr8:144940777

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het CGA @ chr8:144940777

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het CGA @ chr8:144940777

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het CGA @ chr8:144940777

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het CGA @ chr8:144940777

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het CGA @ chr8:144940777

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het CGA @ chr8:144940777

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het CGA @ chr8:144940777

 

Other external references
 

    dbSNP
  • rs74184133
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in