Public Profile -- huE9E383
Public profile url: https://my.pgp-hms.org/profile/huE9E383
Personal Health Records
None added.Samples
| Boston, MA blood collection September 20, 2014 |
Sample
56390296
(whole blood)
mailed
2014-09-20 21:00:00 UTC
by
huE9E383.
Show log
|
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Sample
85446864
(whole blood)
mailed
2014-09-20 21:00:00 UTC
by
huE9E383.
Show log
|
Uploaded data
| Date | Data type | Source | Name | Download | Report | |
|---|---|---|---|---|---|---|
| 2017-06-01 | VCF | Participant | huE9E383_genos.vcf |
Download
(5.5 MB) |
||
| 2017-04-22 | Complete Genomics | PGP | huE9E383: var-GS000040190-ASM.tsv.bz2 |
Download
(1.2 GB) |
View report
• male • 2,778,955,073 positions covered • ref. b37 |
|
| 2012-08-15 | 23andMe | Participant | huE9E383_23andMe_full |
Download
(7.82 MB) |
View report |
Geographic Information
| State: | Virginia |
| Zip code: | 22180 |
Family Members Enrolled
None added.Surveys
| PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue | Responses submitted 5/16/2013 12:58:59. Show responses |
|---|---|
| Timestamp | 5/16/2013 12:58:59 |
| Other condition not listed here? | LGMD |
| PGP Participant Survey | Responses submitted 5/16/2013 13:50:05. Show responses |
| Timestamp | 5/16/2013 13:50:05 |
| Year of birth | 40-49 years |
| Which statement best describes you? | I am comfortable making my genome sequence data publicly available without prior review. |
| Severe disease or rare genetic trait | Yes |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. | Limb girdle muscular dystrophy |
| Disease/trait: Onset | 30-39 years of age |
| Disease/trait: Rarity | Very rare/uncommon |
| Disease/trait: Severity | Moderate severity disease |
| Disease/trait: Relative enrollment | Maybe |
| Disease/trait: Diagnosis | No |
| Sex/Gender | Male |
| Race/ethnicity | White |
| Maternal grandmother: Country of origin | United Kingdom |
| Paternal grandmother: Country of origin | Ireland |
| Paternal grandfather: Country of origin | Ireland |
| Maternal grandfather: Country of origin | United Kingdom |
| Enrollment of relatives | No |
| Enrollment of older individuals | No |
| Enrollment of parents | Maybe |
| Have you uploaded genetic data to your PGP participant profile? | Yes, I have uploaded genetic data |
| Have you used the PGP web interface to record a designated proxy? | No |
| Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? | No, but I plan to |
| Blood sample | No |
| Saliva sample | Yes |
| Microbiome samples | Yes |
| Tissue samples from surgery | No |
| Tissue samples from autopsy | Yes |
| PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies | Responses submitted 5/16/2013 13:54:34. Show responses |
| Timestamp | 5/16/2013 13:54:34 |
| PGP Trait & Disease Survey 2012: Blood | Responses submitted 5/16/2013 13:55:06. Show responses |
| Timestamp | 5/16/2013 13:55:06 |
| PGP Trait & Disease Survey 2012: Vision and hearing | Responses submitted 5/16/2013 13:56:01. Show responses |
| Timestamp | 5/16/2013 13:56:01 |
| Have you ever been diagnosed with one of the following conditions? | Presbyopia |
| PGP Trait & Disease Survey 2012: Cancers | Responses submitted 9/11/2014 22:01:25. Show responses |
| Timestamp | 9/11/2014 22:01:25 |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 9/12/2014 18:16:37. Show responses |
| Timestamp | 9/12/2014 18:16:37 |
| PGP Trait & Disease Survey 2012: Circulatory System | Responses submitted 9/12/2014 18:17:56. Show responses |
| Timestamp | 9/12/2014 18:17:56 |
| PGP Trait & Disease Survey 2012: Nervous System | Responses submitted 9/12/2014 18:18:40. Show responses |
| Timestamp | 9/12/2014 18:18:40 |
| Have you ever been diagnosed with one of the following conditions? | Muscular dystrophy |
| PGP Trait & Disease Survey 2012: Respiratory System | Responses submitted 9/15/2014 15:24:17. Show responses |
| Timestamp | 9/15/2014 15:24:17 |
| PGP Trait & Disease Survey 2012: Digestive System | Responses submitted 9/15/2014 15:24:59. Show responses |
| Timestamp | 9/15/2014 15:24:59 |
| Have you ever been diagnosed with any of the following conditions? | Dental cavities, Gingivitis |
| PGP Trait & Disease Survey 2012: Genitourinary Systems | Responses submitted 9/15/2014 15:25:26. Show responses |
| Timestamp | 9/15/2014 15:25:26 |
| PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue | Responses submitted 9/15/2014 15:26:36. Show responses |
| Timestamp | 9/15/2014 15:26:36 |
| PGP Basic Phenotypes Survey 2015 | Responses submitted 2/29/2016 18:11:02. Show responses |
| Timestamp | 2/29/2016 18:11:02 |
| 1.1 — Blood Type | Don't know |
| 1.2 — Height | 5'10" |
| 1.3 — Weight | 146 |
| 2.1 — Left Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) | 21 |
| 2.2 — Right Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) | 21 |
| 2.3 — Left Eye Color - Text Description | hazel |
| 2.4 — Right Eye Color - Text Description | same |
| 3.1 — What is your natural hair color currently, when without artificial color or dye? | brown |
| 1.4 — Handedness | Right |
Absolute Pitch Survey [see all responses]
Can tell if notes are in tune: Yes
Can sing a melody on key: No
Can recognize musical intervals: Not sure
Do you have absolute pitch? Not sure
Enrollment History
| Participant ID: | huE9E383 |
| Account created: | 2013-05-15 17:42:06 UTC |
| Eligibility screening: | 2013-05-15 18:11:20 UTC (passed v2) |
| Exam: | 2013-05-15 18:46:29 UTC (passed v20120430) |
| Consent: | 2023-11-28 22:50:10 UTC (passed v20210712) |
| Enrolled: | 2013-05-16 16:41:30 UTC |
