ASH1LClinical & Research HubSearchConnectFamilies · Clinical · Research

FAMILY-APPROVED · DE-IDENTIFIED · VARIANT-FIRST

ASH1L case profiles, organized by reported molecular result.

Read 22 family-approved longitudinal histories, each centered on one exact molecular result. Each profile is one person’s history—not a prediction for anyone else.

Published
22
Female
14
Male
8

PROFILE EXPLORER

Narrow the published profiles.

Filters combine with AND logic. They change only this public view—not the cohort or Atlas totals.

22 of 22 profiles shown.

PROTEIN POSITION

Where the 21 published profiles with one protein coordinate map.

Each marker opens its complete longitudinal profile.

MAP REFERENCENM_018489.3 · NP_060959.2
LENGTH2,964 amino acids
MARKERS
FemaleMale

Markers use the MANE Select pair NM_018489.3 / NP_060959.2. Results without one protein coordinate are listed separately with their genomic or gene-level context. Profile cards use one compact map or gene-level identity; open a profile for the full report identity and crosswalk.

VARIANT TYPE KEY
  • Nonsense / stop-gain
  • Frameshift
  • Deletion-insertion / stop-gain
  • Missense
  • Deletion / CNV

Variant type describes the molecular change; it does not state clinical classification or predict severity.

p.Thr114Alap.Pro348Argp.Ile629*p.Lys631Argfs*4p.Ala851Leufs*47p.Asp949Metfs*11p.Arg1270*p.Arg1280*p.Arg1280*p.Phe1310Tyrfs*15p.Lys1347Glufs*7p.Lys1349Glufs*7p.Ser1635Cysfs*18p.Ser1713Cysfs*3p.Trp1919*p.Arg2146*p.Glu2168*p.Asp2244Argfs*7p.Ser2453Prop.Pro2643Serp.Glu2708Argfs*27

Protein features shown: AT-hook 1 aa 887–899 · AT-hook 2 aa 1,347–1,359 · AT-hook 3 aa 1,847–1,859 · AWS aa 2,081–2,132 · SET aa 2,135–2,251 · post-SET aa 2,259–2,275 · Bromodomain aa 2,434–2,540 · PHD aa 2,575–2,621 · BAH aa 2,651–2,788

Profiles without one protein coordinateFemalearr[GRCh38] 1q22(155454274_155539091)x1

PUBLISHED PROFILE KEY

How the 22 published profiles are grouped.

Counts describe only the family-approved profiles published on this page. Browse order: variant type → age group. Sex remains visible on every profile card.

  1. Variant type

  2. Age group

    Ages 1–5
    2
    Ages 6–10
    6
    Ages 11–15
    6
    Ages 16–20
    4
    Ages 21–25
    3
    Ages 26–30
    1

PUBLISHED PROFILES

Choose a longitudinal history.

Grouped by variant type, with the youngest age group first. Sex remains visible on every card. Molecular type and clinical interpretation remain separate.

VARIANT TYPE

Nonsense / stop-gain

6 PROFILES

Premature stop at the listed residue.

Ages 1–5

1 profile
Nonsense / stop-gainPremature stop · aa 2,146

Normalized MANE/map notationNM_018489.3:c.6436C>T · NP_060959.2:p.Arg2146*

Sex
Female
Age group
Ages 1–5
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Start with chapter 1 Female, Ages 1–5Complete profileClinician sheet

Ages 11–15

2 profiles
Nonsense / stop-gainPremature stop · aa 1,280

Normalized MANE/map notationNM_018489.3:c.3838C>T · NP_060959.2:p.Arg1280*

Sex
Female
Age group
Ages 11–15
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Female, Ages 11–15Clinician sheet
Nonsense / stop-gainPremature stop · aa 1,919

Normalized MANE/map notationNM_018489.3:c.5756G>A · NP_060959.2:p.Trp1919*

Sex
Male
Age group
Ages 11–15
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Start with chapter 1 Male, Ages 11–15Complete profileClinician sheet

Ages 16–20

2 profiles
Nonsense / stop-gainPremature stop · aa 1,270

Normalized MANE/map notationNM_018489.3:c.3808C>T · NP_060959.2:p.Arg1270*

Sex
Female
Age group
Ages 16–20
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Female, Ages 16–20Clinician sheet
Nonsense / stop-gainPremature stop · aa 2,168

Normalized MANE/map notationNM_018489.3:c.6502G>T · NP_060959.2:p.Glu2168*

Sex
Female
Age group
Ages 16–20
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Start with chapter 1 Female, Ages 16–20Complete profileClinician sheet

Ages 21–25

1 profile
Nonsense / stop-gainPremature stop · aa 1,280

Normalized MANE/map notationNM_018489.3:c.3838C>T · NP_060959.2:p.Arg1280*

Sex
Female
Age group
Ages 21–25
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Start with chapter 1 Female, Ages 21–25Complete profileClinician sheet

VARIANT TYPE

Frameshift

10 PROFILES

Reading-frame change beginning at the listed residue.

Ages 6–10

4 profiles
FrameshiftFirst altered residue · aa 1,347

Normalized MANE/map notationNM_018489.3:c.4039_4043del · NP_060959.2:p.Lys1347Glufs*7

Sex
Female
Age group
Ages 6–10
Laboratory classification
Pathogenic
Inheritance
Not established
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Female, Ages 6–10Clinician sheet
FrameshiftFirst altered residue · aa 1,713

Normalized MANE/map notationNM_018489.3:c.5138_5139del · NP_060959.2:p.Ser1713Cysfs*3

Sex
Female
Age group
Ages 6–10
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Start with chapter 1 Female, Ages 6–10Complete profileClinician sheet
FrameshiftFirst altered residue · aa 1,310

Normalized MANE/map notationNP_060959.2:p.(Phe1310Tyrfs*15)

Sex
Male
Age group
Ages 6–10
Laboratory classification
Likely pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Male, Ages 6–10Clinician sheet
FrameshiftFirst altered residue · aa 1,349

Normalized protein-map notationNP_060959.2:p.(Lys1349Glufs*7)

Sex
Male
Age group
Ages 6–10
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Male, Ages 6–10Clinician sheet

Ages 11–15

2 profiles
FrameshiftFirst altered residue · aa 2,708

Normalized MANE/map notationNM_018489.3:c.8120dup · NP_060959.2:p.(Glu2708ArgfsTer27)

Sex
Female
Age group
Ages 11–15
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Female, Ages 11–15Clinician sheet
FrameshiftFirst altered residue · aa 1,635

Normalized MANE/map notationNM_018489.3:c.4902_4903del · NP_060959.2:p.Ser1635Cysfs*18

Sex
Male
Age group
Ages 11–15
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Male, Ages 11–15Clinician sheet

Ages 16–20

1 profile
FrameshiftFirst altered residue · aa 631

Normalized MANE/map notationNM_018489.3:c.1892_1893del · NP_060959.2:p.Lys631Argfs*4

Sex
Female
Age group
Ages 16–20
Laboratory classification
Likely pathogenic
Inheritance
Not established
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Female, Ages 16–20Clinician sheet

Ages 21–25

2 profiles
FrameshiftFirst altered residue · aa 949

Normalized MANE/map notationNM_018489.3:c.2845delG · NP_060959.2:p.Asp949Metfs*11

Sex
Female
Age group
Ages 21–25
Laboratory classification
Pathogenic
Inheritance
Not established
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Female, Ages 21–25Clinician sheet
FrameshiftFirst altered residue · aa 2,244

Normalized MANE/map notationNM_018489.3:c.6729dup · NP_060959.2:p.Asp2244Argfs*7

Sex
Male
Age group
Ages 21–25
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Male, Ages 21–25Clinician sheet

Ages 26–30

1 profile
FrameshiftFirst altered residue · aa 851

Normalized MANE/map notationNM_018489.3:c.2550delT · NP_060959.2:p.Ala851Leufs*47

Sex
Female
Age group
Ages 26–30
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Female, Ages 26–30Clinician sheet

VARIANT TYPE

Deletion-insertion / stop-gain

1 PROFILE

Deletion-insertion that creates a premature stop.

Ages 6–10

1 profile
Deletion-insertion / stop-gainDeletion-insertion stop · aa 629

Normalized MANE/map notationNM_018489.3:c.1885_1888delinsTAA · NP_060959.2:p.Ile629*

Sex
Female
Age group
Ages 6–10
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Female, Ages 6–10Clinician sheet

VARIANT TYPE

Missense

4 PROFILES

Single amino-acid substitution; clinical interpretation is shown separately.

Ages 1–5

1 profile
MissenseAmino-acid substitution · aa 2,643

Normalized MANE/map notationNM_018489.3:c.7927C>T · NP_060959.2:p.Pro2643Ser

Sex
Male
Age group
Ages 1–5
Laboratory classification
Variant of uncertain significance
Inheritance
Not established
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Male, Ages 1–5Clinician sheet

Ages 6–10

1 profile
MissenseAmino-acid substitution · aa 348

Normalized MANE/map notationNM_018489.3:c.1043C>G · NP_060959.2:p.Pro348Arg

Sex
Male
Age group
Ages 6–10
Laboratory classification
Variant of uncertain significance
Inheritance
Not established
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Male, Ages 6–10Clinician sheet

Ages 11–15

1 profile
MissenseAmino-acid substitution · aa 114

Normalized MANE/map notationNM_018489.3:c.340A>G · NP_060959.2:p.Thr114Ala

Sex
Male
Age group
Ages 11–15
Laboratory classification
Variant of uncertain significance
Inheritance
Not established
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Male, Ages 11–15Clinician sheet

Ages 16–20

1 profile
MissenseAmino-acid substitution · aa 2,453

Normalized MANE/map notationNM_018489.3:c.7357T>C · NP_060959.2:p.Ser2453Pro

Sex
Female
Age group
Ages 16–20
Laboratory classification
Likely pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Female, Ages 16–20Clinician sheet

VARIANT TYPE

Deletion / CNV

1 PROFILE

Copy-number deletion affecting part of the gene; no single protein coordinate is assigned.

Ages 11–15

1 profile
Deletion / CNVNo single protein position

Genomic and gene-level notationGRCh38 1q22:155454274–155539091 · ASH1L NM_018489.3 exons 2–4 of 28

Sex
Female
Age group
Ages 11–15
Laboratory classification
Pathogenic
Inheritance
De novo
Related Atlas areas

Topic links only; they do not establish prevalence, severity, or causation.

Read the complete profile Female, Ages 11–15Clinician sheet