MEN2 Database Submission Form

Please fill out this form to submit new Multiple Endocrine Neoplasia type 2 (MEN2) sequence variations to the database. This form should also be used to update clinical information or phenotype of variants already in the database. Submissions will be reviewed before they are added to the database and the submitter may be contacted for clarification or additional information. For this reason, valid contact information is required to make a submission. If you have any questions or concerns about the submission process, please contact Rebecca Margraf, PhD (rebecca.margraf@aruplab.com) at ARUP Laboratories. If you have multiple mutations to submit, you can also contact us about an efficient transfer of this data into the database.

Required Fields *

Note: Please describe your variant according to current recommendations by the HGVS, especially for mutations causing truncation or changing the normal protein reading frame. Additional information can be added into the comments section.

Sequence Change 1


Location * Example: Exon11
Codon Sequence Change Example: 634(TGC-CGC) (no spaces)
Protein Change * Example: p.C634R (no spaces)
Nucleotide Change * Example: c.1900T>C (no spaces)

  *For a second change in the same family/patient.
Additional Comments about sequence(s):

Sequence Variations


Detection Methods and Exons/Mutations Investigated * Example: Sequencing analysis

Clinical Consequences


Patient's Age of Onset in Years:
Medullary Thyroid Carcinoma (MTC) * 'Unknown' or 'NA' Acceptable
Metastatic MTC * 'Unknown' or 'NA' Acceptable
Pheochromocytoma * 'Unknown' or 'NA' Acceptable
Hyperparathyroidism * 'Unknown' or 'NA' Acceptable
Other Clinical Symptoms

Family History


Family History
Family Diagnosis
Comments

Publication Information


References
Contributors

Contact Information


Contact Name*
Institution Name*
Address
City
State
Country
Postal Code
   Display my email address with my contact information for this submission