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Update STRchive-database.json for DAB1 #27

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merged 2 commits into from
Aug 5, 2024
Merged

Update STRchive-database.json for DAB1 #27

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51b352a
Update STRchive-database.json
laurelhiatt Jul 29, 2024
fb0a5af
changed language to be more precise
laurelhiatt Aug 3, 2024
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10 changes: 5 additions & 5 deletions data/STRchive-database.json
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Original file line number Diff line number Diff line change
Expand Up @@ -1185,16 +1185,16 @@
"Inheritance":"AD",
"type":"Intronic",
"location_in_gene":"Intron 1 (most isoforms)",
"normal":"0-16",
"normal":"0-30",
"normal_min":0.0,
"normal_max":16.0,
"normal_max":30.0,
"intermediate":null,
"intermediate_min":null,
"intermediate_max":null,
"pathogenic":"31-75",
"pathogenic_min":31.0,
"pathogenic_max":75.0,
"ref_copies":16.6,
"ref_copies":0.0,
"repeatunitlen":5,
"age_onset":"Typical: 33-53; Range: 18-64 (GeneReview)",
"age_onset_min":18,
Expand All @@ -1207,7 +1207,7 @@
"Mechanism_source":"(OMIM)",
"source":"Seixas et al 2017 AJHG, NBK541729, s40478-021-01201-x",
"notes":"Novel. Normal: [(ATTTT)7\u2013400] Pathogenic: [(ATTTT)60\u201379(ATTTC)31\u201375(ATTTT)58\u201390], ATTTC within (ATTTT)7\u2013400 repeat region",
"details":null,
"details":"Pathogenicity only associated with pathogenic motif >30 repeats, flanked by at least 58 repeats of reference motif on either side; normal repeat can range from 1 to 400 repeats, although typically less than 30 (NBK541729). The pathogenic motif is unstable, particularly when transmitted by the father (NBK541729).",
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"width":81.0,
"OMIM":"615945",
"Prevalence":null,
Expand Down Expand Up @@ -3943,4 +3943,4 @@
"GeneReviews":null,
"Year":null
}
]
]