rs369326424

This variant is located in the PCYT1A gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

not provided; Inborn genetic diseases

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About PCYT1A

This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]

View all PCYT1A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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