BACH2 L24P

CI-VAR-00002318Explore in graph →CIViC 3755

Curated evidence

Evidence by cancer (1 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Unmapped disease1unmapped disease
BACH2 L24P	(functional)	Functional	D	Supports Loss Of Function	2	submitted	EID10209 A female with infancy-onset colitis who later presented with non-infectious fever, splenomegaly and pancytopenia was found to have a BACH2 L24P mutation by whole exome sequencing. Expression of the wi… (full text at CIViC) PMID 28530713 · Afzali et al., 2017 · Open in CIViC	civic

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.