MAN2A1 S1026Del - 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.

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Curation:
Currentness:

MAN2A1 S1026Del

(MAN2A1 1026delSins)


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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het - @ chr5:109190936

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het - @ chr5:109190936

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het - @ chr5:109190936

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het - @ chr5:109190936

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het - @ chr5:109190936

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het - @ chr5:109190936

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het - @ chr5:109190936

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom - @ chr5:109190936

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom - @ chr5:109190936

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het - @ chr5:109190936

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het - @ chr5:109190936

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het - @ chr5:109190936

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het - @ chr5:109190936

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het - @ chr5:109190936

 

Other external references
 

    dbSNP
  • rs71929671
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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