SPTY2D1 K617R - 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:

SPTY2D1 K617R

(SPTY2D1 Lys617Arg)


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 @ chr11:18633897: 6.1% (659/10758) in EVS
  • C @ chr11:18590472: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 6.1% (659/10758)

Publications
 

Genomes
 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr11:18633897

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr11:18633897

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr11:18633897

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr11:18633897

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr11:18590473

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr11:18590473

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr11:18590473

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr11:18590473

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr11:18590473

 

Other external references
 

    dbSNP
  • rs35411689
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.597 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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