This variant affects gene LOC126806932, PCYT1A (BRD4-independent group 4 enhancer GRCh37_chr3:195973646-195974845| phosphate cytidylyltransferase 1A, choline) located on Chromosome 3. Evaluate its biological effect and specify any disease association.
Pathogenic; Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome