LOSS-OF-FUNCTION / TRUNCATING
33people
15 nonsense or stop-gain and 18 frameshift or other truncating results.
- Nonsense / stop-gain
- 15
- Frameshift or other truncating
- 18
COMMUNITY
63 people across 19 countries.
Our community includes children and adults with different types of ASH1L genetic findings.
63people in our community
38 / 25male / female
61people shown by age group
18adults and young people approaching adulthood
19countries represented
COMMUNITY OVERVIEW
Explore age, sex, and genetic findings.
These numbers describe our community. They do not predict how severely anyone is affected.
SEX
Male and female counts.
38male
25female
CURRENT AGE
Age distribution of the connected group.
61people shown by age group
Early childhood <4
9
Child 4–11
21
Adolescent 12–17
13
Adult / transition
18
Shown in 4 broad age groups.
GENETIC RESULT TYPE
Results across the connected group.
LoF / truncating
33
Missense
19
CNV / deletion
5
Complex / mixed / in-frame
3
Splice, protein undefined
2
Pending / unresolved
1
GENETIC FINDINGS
The community includes several types of ASH1L genetic findings.
SINGLE-POSITION PROTEIN MAP
52people shown on the map
The map shows 33 loss-of-function and 19 missense findings.
Open the protein-position map →people from one family
people with an additional finding recorded
Includes reported or unresolved genetic and clinical findings for separate interpretation; this is not a count of confirmed additional diagnoses. Reviewed September 7, 2026.
INTERNATIONAL REPRESENTATION
People in our community come from 19 countries.
United States
Canada
Australia
Brazil
Germany
Spain
Italy
United Kingdom
Austria
Belgium
France
Lithuania
Mexico
Netherlands
Pakistan
Poland
Romania
Türkiye
United Arab Emirates