SALL2 S75C - 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:

SALL2 S75C

(SALL2 Ser75Cys)


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

  • C @ chr14:21993638: 11.2% (1200/10758) in EVS
  • C @ chr14:21063477: 7.6% (9/118) in GET-Evidence
  • Frequency shown in summary reports: 11.2% (1200/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr14:21993638

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr14:21993638

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr14:21993638

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr14:21993638

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr14:21993638

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr14:21063478

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr14:21063478

 

NA12878

 

Other external references
 

    dbSNP
  • rs2242527
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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