PCYT1A
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PCYT1A (HGNC:8754) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
phosphate cytidylyltransferase 1A, choline
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PCYT1
Alias symbols
CT, CTPCT, CCTalpha
%HI
18.96(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
0.93(Read more about gnomAD LOEUF score)
Cytoband
3q29
Genomic Coordinates
GRCh37/hg19: chr3:195961239-196014597 NCBI Ensembl UCSC
GRCh38/hg38: chr3:196234368-196287726 NCBI Ensembl UCSC
MANE Select Transcript
NM_001312673.2 ENST00000431016.6 (Read more about MANE Select)
Function
Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis. {ECO:0000269|PubMed:10480912, ECO:0000269|PubMed:7918629}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-1618
ClinGen Curation ID:
CCID:007630
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)