ALPK2 F1389Del - 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:

ALPK2 F1389Del

(ALPK2 1389delFins)


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

  • - @ chr18:54354235: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 9.4% (12/128)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het - @ chr18:56203253

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het - @ chr18:56203253

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het - @ chr18:56203253

 

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het - @ chr18:56203253

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het - @ chr18:56203253

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het - @ chr18:56203253

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het - @ chr18:56203253

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het - @ chr18:56203253

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het - @ chr18:56203253

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom - @ chr18:56203253

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het - @ chr18:56203253

 

GS18504 - var-GS18504-1100-36-ASM
het @ chr18:54354236

 

GS19020 - var-GS19020-1100-36-ASM
het @ chr18:54354236

 

GS19649 - var-GS19649-1100-36-ASM
het @ chr18:54354236

 

Other external references
 

    dbSNP
  • rs112880633
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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