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FMR1 Genetics

153 Shared Subjects

N/A
Clinical Assessments
Gen Test
12/20/2019
fmr101
12/20/2019
View Change History
01
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 :: 1260 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:

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