Previous symbols: H3F3, H3F3A. Aliases: H3.3A.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Bone Giant Cell Tumor | somatic driver somatic | |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 | causative de novo |
mechanism: De Novo H3-3A Variant Altering Histone H3.3
variant: H3-3A p.Thr46Ile (mature-histone T45I)
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Bryant-Li-Bhoj neurodevelopmental syndrome 1 MONDO:0030606 | AD | Definitive 2024-03-19 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.