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NIMH Data Archive
NDA ABCD CCF OAI NIAAADA AMP SCZ HEAL

FMR1 Genetics

180 Shared Subjects

N/A
Clinical Assessments
Gen Test
12/20/2019
fmr101
12/20/2019
View Change History
01
Definition
Submission Template
Query Element Name Data Type Size Required Description Value Range Notes Aliases
subjectkey GUID Required The NDAR Global Unique Identifier (GUID) for research subject NDAR* candidateguid
src_subject_id String 20 Required Subject ID how it's defined in lab/project
interview_date Date Required Date on which the interview/genetic test/sampling/imaging/biospecimen was completed. MM/DD/YYYY
interview_age Integer Required Age in months at the time of the interview/test/sampling/imaging. 0::1440 Age is rounded to chronological month. If the research participant is 15-days-old at time of interview, the appropriate value would be 0 months. If the participant is 16-days-old, the value would be 1 month. candidate_age_in_months
sex String 20 Required Sex of subject at birth M;F; O; NR M = Male; F = Female; O=Other; NR = Not reported gender
fxgenreport Integer Recommended Report Type 0::3 0=previous;1=Kimball;2=Rush;3=both
fxgenresult Integer Recommended FMR1 mutation: positive/negative
0;1
0 = Negative ; 1 = Positive
fxgenmutcat Integer Recommended FMR1 Mutation Category
1::5
1 = Full mutation ; 2 = Premutation ; 3 = Mosaic ; 4 = Full mutation mosaic ; 5 = Non-mutated
cgg_controllingforar Float Recommended FMR1 gene max CGG control for Activation Ratio 2.95::100.8
fxgencggmax Integer Recommended FMR1 gene Maximum CGG of methylated and unmethylated alleles 15::1700
fxgencgg_1 Integer Recommended FMR1 gene methylated CGG Repeat 1 (number, maximum if range) 201::1500
fxgencgg_2 Integer Recommended FMR1 gene methylated CGG Repeat 2 (number, maximum if range) 201::1500
fxgencgg_3 Integer Recommended FMR1 gene methylated CGG Repeat 3 (number, maximum if range) 201::1500
fxgencgg_4 Integer Recommended FMR1 gene methylated CGG Repeat 4 (number, maximum if range) 201::1500
fxgencgg_5 Integer Recommended FMR1 gene methylated CGG Repeat 5 (number, maximum if range) 201::1500
fxgencgg_6 Integer Recommended FMR1 gene methylated CGG Repeat 6 (number, maximum if range) 201::1500
fxgencgg_7 Integer Recommended FMR1 gene methylated CGG Repeat 7 (number, maximum if range) 201::1500
fxgencgg_8 Integer Recommended FMR1 gene methylated CGG Repeat 8 (number, maximum if range) 201::1500
fxgencgg_u1 Integer Recommended FMR1 gene unmethylated CGG Repeat 1 (number, maximum if range) 19::513
fxgencgg_u2 Integer Recommended FMR1 gene unmethylated CGG Repeat 2 (number, maximum if range) 19::513
fxgencgg_u3 Integer Recommended FMR1 gene unmethylated CGG Repeat 3 (number, maximum if range) 19::513
fxgencgg_u4 Integer Recommended FMR1 gene unmethylated CGG Repeat 4 (number, maximum if range) 19::513
fxgencgg_u5 Integer Recommended FMR1 gene unmethylated CGG Repeat 5 (number, maximum if range) 19::513
fxgencgg_u6 Integer Recommended FMR1 gene unmethylated CGG Repeat 6 (number, maximum if range) 19::513
fxgencgg_u7 Integer Recommended FMR1 gene unmethylated CGG Repeat 7 (number, maximum if range) 19::513
fxgencgg_u8 Integer Recommended FMR1 gene unmethylated CGG Repeat 8 (number, maximum if range) 19::513
fxgencggall_1 Integer Recommended FMR1 gene 1st CGG Allele (number) 0::1270
fxgencggall_nagg1 Integer Recommended FMR1 gene 1st CGG Allele, number of AGG 0::4
fxgencggall_p1agg1 Integer Recommended FMR1 gene 1st CGG Allele, AGG position 1 0::40
fxgencggall_p2agg1 Integer Recommended FMR1 gene 1st CGG Allele, AGG position 2 0::40
fxgencggall_p3agg1 Integer Recommended FMR1 gene 1st CGG Allele, AGG position 3 0::40
fxgencggall_p4agg1 Integer Recommended FMR1 gene 1st CGG Allele, AGG position 4 0::40
fxgencggall_2 Integer Recommended FMR1 gene 2nd CGG Allele (number) 0::1270
fxgencggall_nagg2 Integer Recommended FMR1 gene 2nd CGG Allele, number of AGG 0::4
fxgencggall_p1agg2 Integer Recommended FMR1 gene 2nd CGG Allele, AGG position 1 0::40
fxgencggall_p2agg2 Integer Recommended FMR1 gene 2nd CGG Allele, AGG position 2 0::40
fxgencggall_p3agg2 Integer Recommended FMR1 gene 2nd CGG Allele, AGG position 3 0::40
fxgencggall_p4agg2 Integer Recommended FMR1 gene 2nd CGG Allele, AGG position 4 0::40
fxgencggall_3 Integer Recommended FMR1 gene 3rd CGG Allele (number) 0::1270
fxgencggall_nagg3 Integer Recommended FMR1 gene 3rd CGG Allele, number of AGG 0::4
fxgencggall_p1agg3 Integer Recommended FMR1 gene 3rd CGG Allele, AGG position 1 0::40
fxgencggall_p2agg3 Integer Recommended FMR1 gene 3rd CGG Allele, AGG position 2 0::40
fxgencggall_4 Integer Recommended FMR1 gene 4th CGG Allele (number) 0::1270
fxgencggall_nagg4 Integer Recommended FMR1 gene 4th CGG Allele, number of AGG 0::4
fxgencggall_p1agg4 Integer Recommended FMR1 gene 4th CGG Allele, AGG position 1 0::40
fxgencggall_p2agg4 Integer Recommended FMR1 gene 4th CGG Allele, AGG position 2 0::40
fxgenmeth Integer Recommended FMR1 gene % methylation (Kimball's overall %) 0::100
fxgenmeth_cggmax Integer Recommended FMR1 gene % methylation for maximum CGG 0::100
fxgenpremut Integer Recommended FMR1 gene % premutation (mosaics only) 0::100
fxgenmutatkb1 Float Recommended FMR1 gene 1st Mutation size in kilobases (number, maximum if range) 0.1::7
fxgenmutatreps1 Integer Recommended FMR1 gene 1st Mutation size-repeats (number, maximum if range) 60::1600
fxgenmutatdna1 Integer Recommended FMR1 gene 1st Mutation % total mutated DNA 0::100
fxgenmutatmeth1 Integer Recommended FMR1 gene 1st Mutation % methylation 0::100
fxgenmutatkb2 Float Recommended FMR1 gene 2nd Mutation size in kilobases (number, maximum if range) 0.2::9.0
fxgenmutatreps2 Integer Recommended FMR1 gene 2nd Mutation size-repeats (number, maximum if range) 100::1700
fxgenmutatdna2 Float Recommended FMR1 gene 2nd Mutation % total mutated DNA 0::100
fxgenmutatmeth2 Integer Recommended FMR1 gene 2nd Mutation % methylation 0::100
fxgenar Float Recommended FMR1 gene Activation Ratio/AR (females only) 0::1
fxgenfmrp Integer Recommended FMR1 gene % Fragile X Mental Retardation Protein (FMRP) from Kimball or older 0::100
genqfmrp_elisa1 Integer Recommended FMR1 gene (1st) ELISA Fragile X Mental Retardation Protein (FMRP) ng/ug total protein 0::9
genqfmrp_elisa2 Integer Recommended FMR1 gene (2nd) ELISA Fragile X Mental Retardation Protein (FMRP) ng/ug total protein 0::9
genqfmrp_lumin1 Float Recommended FMR1 gene (1st) Luminex Fragile X Mental Retardation Protein (FMRP) ng/ug total protein 0::0.05
genqfmrp_lumin2 Float Recommended FMR1 gene (2nd) Luminex Fragile X Mental Retardation Protein (FMRP) ng/ug total protein 0::0.05
genqfmrp_luminest Float Recommended FMR1 gene Luminex Fragile X Mental Retardation Protein (FMRP) estimated from ELISA FMRP 0::0.05
genqfmrp_all Float Recommended FMR1 gene quantification of Fragile X Mental Retardation Protein (FMRP) (Luminex or est.Luminex) 0::0.05
fxgen_deletion String 500 Recommended FMR1 gene Deletion notes
grey_zone__40_54_cgg_repeats_ Integer Recommended FMR1 gene Grey Zone (40-54 CGG Repeats)
0;1
0 = No; 1 = Yes
gengreyzone Integer Recommended FMR1 gene Grey Zone results (intermediate allele, neither normal nor abnormal) 0;1 0 = Not Checked; 1 = Checked
Data Structure

This page displays the data structure defined for the measure identified in the title and structure short name. The table below displays a list of data elements in this structure (also called variables) and the following information:

  • Element Name: This is the standard element name
  • Data Type: Which type of data this element is, e.g. String, Float, File location.
  • Size: If applicable, the character limit of this element
  • Required: This column displays whether the element is Required for valid submissions, Recommended for valid submissions, Conditional on other elements, or Optional
  • Description: A basic description
  • Value Range: Which values can appear validly in this element (case sensitive for strings)
  • Notes: Expanded description or notes on coding of values
  • Aliases: A list of currently supported Aliases (alternate element names)
  • For valid elements with shared data, on the far left is a Filter button you can use to view a summary of shared data for that element and apply a query filter to your Cart based on selected value ranges

At the top of this page you can also:

  • Use the search bar to filter the elements displayed. This will not filter on the Size of Required columns
  • Download a copy of this definition in CSV format
  • Download a blank CSV submission template prepopulated with the correct structure header rows ready to fill with subject records and upload

Please email the The NDA Help Desk with any questions.

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