CHST8 R77W - 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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(CHST8 Arg77Trp)

You are viewing an old version of this page that was saved on May 8, 2010 at 4:43pm by Genome Importing Robot.

Added in this revision:

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr19:34262922: 0.5% (51/10748) in EVS
  • T @ chr19:38954761: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.5% (51/10748)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr19:34262922


Other external references

  • Score: 0.961 (probably damaging)
    Web search results (4 hits -- see all)
  • Type III 98%
    ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ... (0.984) Polymorphism (dbSNP:rs3865205) 9920877 KRT16 P08779 R127C 130 ...
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... rs10004516) VHL P40337 P81S 80 VAR_005689 CMGC (0.938) CDK (0.954) MAPK (0.987) ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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