GSTM1 S210T - 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:

GSTM1 S210T

(GSTM1 Ser210Thr)


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 @ chr1:110037410: 58.9% (33/56) in GET-Evidence
  • Frequency shown in summary reports: 58.9% (33/56)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom A @ chr1:110235888

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr1:110235888

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom A @ chr1:110235888

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het A @ chr1:110235888

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom A @ chr1:110235888

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr1:110235888

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom A @ chr1:110235888

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom A @ chr1:110235888

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom A @ chr1:110235888

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom A @ chr1:110235888

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom A @ chr1:110235888

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr1:110235888

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom A @ chr1:110235888

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr1:110037411

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr1:110037411

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr1:110037411

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr1:110037411

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr1:110037411

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr1:110037411

 

GS20509 - var-GS20509-1100-36-ASM
hom A @ chr1:110037411

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr1:110037411

 

Other external references
 

    dbSNP
  • rs449856
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (1 hit -- see all)
  • Parkinson Disease Knowledgebase
    GSTM1. Variant (mutation/polymorphism) information mined from UniProt : ... K173N (Polymorphism) S210T (Polymorphism) [ VAR_014497 ] S210T (Polymorphism) suisheng ...
    datam.i2r.a-star.edu.sg/mdpd/detail.php?symbol=GSTM1&sec=2

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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