NTM-IT

Chr 11

NTM intronic transcript

Also known as: NTM-IT3

NCBI Gene: 100874281 ENSG00000238262

ResearchGenerating clinical summary…

Active trials

975

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (1)

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 NTM-IT?

gnomAD v4 · ~76k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 25,000

2 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in NTM-IT; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 2 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
Admixed American	~7,633	none seen	≈ 1 in 3,800
East Asian	~2,585	none seen	≈ 1 in 2,600

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.