FGF14-IT1

Chr 13

FGF14 intronic transcript 1

I cannot provide a clinical gene summary for FGF14-IT1 as no supporting data about protein function, associated diseases, or inheritance patterns has been provided. Clinical gene summaries require specific information about the gene's biological role and clinical phenotypes to ensure accuracy and safety for clinical use.

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 (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in FGF14-IT1?

gnomAD v4 · ~76k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 1,900

8 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in FGF14-IT1; 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 · 7 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~34k	none seen	1 in 2,600
African / African American	~21k	none seen	≈ 1 in 7,200
Admixed American	~7,652	none seen	≈ 1 in 2,500
European (Finnish)	~5,313	none seen	≈ 1 in 5,300
East Asian	~2,601	none seen	≈ 1 in 2,600
South Asian	~2,418	none seen	≈ 1 in 1,500
Remaining (unassigned)	~1,055	none seen	≈ 1 in 1,100

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.