SPRR2D T20A - 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:

SPRR2D T20A

(SPRR2D Thr20Ala)


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 @ chr1:153012765: 1.8% (191/10676) in EVS
  • C @ chr1:151279388: 9.4% (10/106) in GET-Evidence
  • Frequency shown in summary reports: 1.8% (191/10676)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr1:153012765

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr1:153012765

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom C @ chr1:153012765

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr1:153012765

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr1:151279389

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr1:151279389

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr1:151279389

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr1:151279389

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr1:151279389

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr1:151279389

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr1:151279389

 

Other external references
 

    dbSNP
  • rs1846857
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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