PCYT1A Chromosome 3
Phosphate cytidylyltransferase 1A, choline
Upload your DNA to see your personal genotypes for variants in PCYT1A.
What This Gene Does
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]
Associated Conditions (7)
Leber congenital amaurosis
PCYT1A-related disorder
Inborn genetic diseases
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Lipodystrophy
congenital generalized
type 5
Key Variants
RS1577358031
Conflicting classifications of pathogenicity
Leber congenital amaurosis, Leber congenital amaurosis
Health Risk
RS201929666
Conflicting classifications of pathogenicity
PCYT1A-related disorder, Inborn genetic diseases, PCYT1A-related disorder
Health Risk
RS587777192
Conflicting classifications of pathogenicity
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Health Risk
RS587777193
Conflicting classifications of pathogenicity
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Health Risk
RS587777196
Conflicting classifications of pathogenicity
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Health Risk
RS760919068
Conflicting classifications of pathogenicity
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Health Risk
RS771425372
Conflicting classifications of pathogenicity
Lipodystrophy, congenital generalized, type 5
Health Risk
RS1057518600
Likely pathogenic
Health Risk
RS2474015361
Likely pathogenic
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Health Risk
RS762145853
Likely pathogenic
Health Risk
RS765196598
Likely pathogenic
Health Risk
RS1285004802
Pathogenic
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1577358031 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis, Leber congenital amaurosis |
| RS201929666 | Health Risk | Conflicting classifications of pathogenicity | PCYT1A-related disorder, Inborn genetic diseases, PCYT1A-related disorder |
| RS587777192 | Health Risk | Conflicting classifications of pathogenicity | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777193 | Health Risk | Conflicting classifications of pathogenicity | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777196 | Health Risk | Conflicting classifications of pathogenicity | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS760919068 | Health Risk | Conflicting classifications of pathogenicity | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS771425372 | Health Risk | Conflicting classifications of pathogenicity | Lipodystrophy, congenital generalized, type 5 |
| RS1057518600 | Health Risk | Likely pathogenic | — |
| RS2474015361 | Health Risk | Likely pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS762145853 | Health Risk | Likely pathogenic | — |
| RS765196598 | Health Risk | Likely pathogenic | — |
| RS1285004802 | Health Risk | Pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS1398190721 | Health Risk | Pathogenic | Lipodystrophy, congenital generalized, type 5 |
| RS1724289595 | Health Risk | Pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777189 | Health Risk | Pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Inborn genetic diseases, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777191 | Health Risk | Pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777194 | Health Risk | Pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777195 | Health Risk | Pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS540053239 | Health Risk | Pathogenic/Likely pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777190 | Health Risk | Pathogenic/Likely pathogenic | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |