rs540053239
This is a variant in the PCYT1A gene that changes a arginine to an serine.
▶ClinVar annotation
Pathogenic★★★☆
3 submitters2 publicationsSpondylometaphyseal dysplasia-cone-rod dystrophy syndrome
View on ClinVar →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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