FAM74A4

Chr 9

family with sequence similarity 74 member A4

Also known as: FAM74A2

I cannot provide a clinical summary for FAM74A4 as no information about this gene's protein function, associated diseases, or inheritance patterns was provided in the data you referenced. To write an accurate clinical summary following your guidelines, I would need specific information about what the FAM74A4 protein does, what neurological conditions result from mutations in this gene, and the inheritance pattern of those conditions.

Research

ResearchGenerating clinical summary…

Active trials

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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

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in FAM74A4?

gnomAD v4 · ~0k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

none observed

0 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in FAM74A4; 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.