ZFYVE19

Chr 15

zinc finger FYVE-type containing 19

Also known as: ANCHR, MPFYVE, PFIC9

NCBI Gene: 84936 ENSG00000166140 UniProt: Q96K21

Enables phosphatidylinositol-3-phosphate binding activity. Involved in midbody abscission; mitotic cytokinesis checkpoint signaling; and negative regulation of cytokinesis. Located in centrosome; cleavage furrow; and midbody. Implicated in progressive familial intrahepatic cholestasis. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCholestasis, progressive familial intrahepatic, 9

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in ZFYVE19?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

784 rare PASS variants

Rare truncating (LoF)

1 in 650

143 rare PASS variants

Rare synonymous (reference)

1 in 110

302 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ZFYVE19. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 140	1 in 760
South Asian	~43k	1 in 87	1 in 560
Remaining (unassigned)	~30k	1 in 72	1 in 480
European (Finnish)	~27k	1 in 200	1 in 1,200
Admixed American	~22k	1 in 110	1 in 530
African / African American	~21k	1 in 47	1 in 590
East Asian	~20k	1 in 74	1 in 210
Ashkenazi Jewish	~13k	1 in 350	none seen
Middle Eastern	~2,884	1 in 76	1 in 470

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.