SPINK5 D106N - 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:

SPINK5 D106N

(SPINK5 Asp106Asn)


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

  • A @ chr5:147466001: 2.3% (219/9596) in EVS
  • A @ chr5:147446193: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 2.3% (219/9596)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr5:147466001

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr5:147466001

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr5:147466001

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr5:147446194

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr5:147446194

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr5:147446194

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr5:147446194

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr5:147446194

 

Other external references
 

    dbSNP
  • rs17860502
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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