SPTBN5 Y2922H - 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:

SPTBN5 Y2922H

(SPTBN5 Tyr2922His)


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

  • G @ chr15:42148736: 4.8% (492/10304) in EVS
  • G @ chr15:39936027: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 4.8% (492/10304)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr15:42148736

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr15:42148736

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr15:42148736

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr15:42148736

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr15:42148736

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr15:42148736

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr15:42148736

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr15:39936028

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr15:39936028

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr15:39936028

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr15:39936028

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr15:39936028

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr15:39936028

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr15:39936028

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr15:39936028

 

Other external references
 

    dbSNP
  • rs61733880
    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 = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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