LOSS-OF-FUNCTION / TRUNCATING
35people
16 nonsense or stop-gain and 19 frameshift or other truncating results.
Reported consequence categories do not establish measured loss of function.
- Nonsense / stop-gain
- 16
- Frameshift or other truncating
- 19
COMMUNITY
65 people across 19 countries.
Our community includes children and adults with different types of ASH1L genetic findings.
65people in our community
38 / 27male / female
63people 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
27female
REPORTED AGE
Age distribution of the connected group.
63people shown by age group
Early childhood <4
10
Child 4–11
22
Adolescent 12–17
13
Adult / transition
18
Shown in 4 broad age groups.
GENETIC RESULT TYPE
Results across the connected group.
Reported LoF / truncating
35
Missense
19
CNV / deletion
5
Complex / mixed / in-frame
3
Splice, protein undefined
3
GENETIC FINDINGS
The community includes several types of ASH1L genetic findings.
SINGLE-POSITION PROTEIN MAP
53people shown on the map
The map shows 34 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. Updated September 24, 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