rs913593005
This variant is located in the PCYT1A gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout 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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