KATNBL1

Chr 15

katanin regulatory subunit B1 like 1

Also known as: C15orf29

NCBI Gene: 79768 ENSG00000134152 UniProt: Q9H079

Predicted to enable microtubule binding activity. Involved in cytoplasmic microtubule organization and positive regulation of cytoskeleton organization. Located in mitotic spindle pole; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

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 KATNBL1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

330 rare PASS variants

Rare truncating (LoF)

1 in 3,200

60 rare PASS variants

Rare synonymous (reference)

1 in 1,100

102 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for KATNBL1. 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 280	1 in 3,400
South Asian	~43k	1 in 140	1 in 4,000
Remaining (unassigned)	~30k	1 in 160	1 in 810
European (Finnish)	~27k	1 in 340	≈ 1 in 13,000
Admixed American	~22k	1 in 160	1 in 1,600
African / African American	~21k	1 in 99	≈ 1 in 8,300
East Asian	~20k	1 in 230	1 in 1,900
Ashkenazi Jewish	~13k	≈ 1 in 6,500	≈ 1 in 13,000
Middle Eastern	~2,883	1 in 150	≈ 1 in 1,400

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.