rs770051211
This variant is located in the CFAP410 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout CFAP410
Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
View all CFAP410 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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