Nonsense / stop-gain
A substitution introduces a premature stop codon.
COHORT
Sixty-one people across nineteen countries.
This cohort snapshot spans infancy through adulthood, includes five molecular-context categories plus one unresolved group, and preserves evidence depth separately from cohort membership.
61active people
37 / 24male / female
59living people with mapped current age
17currently age 18 or older
19countries represented
CURRENT DISTRIBUTION
Age and sex remain visible inside molecular architecture.
These are roster counts, not severity categories. Current age is not age of onset, and relatives remain people in the roster while pedigree dependence is handled separately in analysis.
MOLECULAR ARCHITECTURE × SEX
All 61 people.
37male24female
MaleFemale
LoF / truncating
32M 17 · F 15
Missense
18M 12 · F 6
CNV / deletion
5M 3 · F 2
Complex / mixed
3M 2 · F 1
Splice, protein undefined
2M 2 · F 0
Pending / unresolved
1M 1 · F 0
CURRENT AGE × SEX
Age distribution of the cohort.
59living people with a mapped current-age band
MaleFemale
Infant <1
1M 1 · F 0
Toddler 1–3
8M 7 · F 1
Child 4–11
20M 14 · F 6
Adolescent 12–17
13M 7 · F 6
Adult 18+
17M 7 · F 10
Passed / deceased
1M 0 · F 1
Age not reported
1M 1 · F 0
The 59 living people with mapped current age are shown in five age bands. One deceased participant and one person without a reported current age remain visible as separate status rows.
Molecular architectureAllMaleFemale
LoF / truncating321715
Missense18126
CNV / deletion532
Complex / mixed321
Splice, protein undefined220
Pending / unresolved110
NESTED CONSEQUENCE BREAKDOWN
Frameshift, nonsense, and other truncating records are now separated.
These are subtypes inside the top-level architecture. The subtype counts close to their parent group and must not be added to the 61-person total again.
32
LoF / truncating people
16 nonsense + 14 frameshift + 2 other truncating = 32.
Frameshift
An insertion, deletion, or duplication shifts the reading frame and creates a downstream premature stop.
Other truncating
A truncating consequence that is retained separately from the canonical nonsense and frameshift labels in the governed roster.
3
Complex / mixed people
1 dual missense + 1 missense with nonsense + 1 in-frame deletion = 3.
Dual missense
One person has two reported missense protein consequences.
Missense + nonsense
One person has reported missense and stop-gain protein consequences.
In-frame deletion
One person has a three-base deletion that removes one amino acid without shifting the frame.
Separate but still visible: 18 single-missense people, five ASH1L-containing CNV/deletion records, two splice or noncoding records without a defined protein consequence, and one pending molecular record complete the 61-person architecture.
familial-cluster rows
Pedigree-aware analyses keep relatives from being counted as independent recurrence events.
co-finding-control rows
Additional genetic or clinically relevant findings remain interpretation variables, not extra ASH1L categories.
EVIDENCE DEPTH
One cohort does not mean one valid denominator.
The full roster answers who is connected. Narrower views answer molecular-position, phenotype-coverage, record-depth, or chronology questions.
active roster
Default person-level cohort anchor.
exact molecular line visible
Current exact molecular line available in the active roster.
sequence-defined protein map
Positioned LoF/truncating and missense records.
profiles with phenotype evidence
At least one mapped phenotype observation.
record-backed clinical minimum
The strict clinical-depth subset; distinct from molecular-report presence and the direct molecular-plus-clinical subset.
deep longitudinal packets
Age-ordered, feature- and timeline-rich reconstruction.
Interpretation rule
Open the canonical denominator registry10 people currently have no mapped phenotype evidence. That means not reported—not unaffected, mild, normal, or negative.
INTERNATIONAL REPRESENTATION
All 61 people have a current country assignment.
United States24
Canada6
Australia4
Brazil4
Germany4
Spain4
Italy2
United Kingdom2
Austria1
Belgium1
France1
Lithuania1
Mexico1
Netherlands1
Pakistan1
Poland1
Romania1
Türkiye1
United Arab Emirates1