Variant ID | 19795 |
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Entrez Gene ID | 58488 |
Gene | PCTP (GeneCards) |
Location | hg19 17:53895207-53895207
hg38 17:55817846-55817846 |
Disease | Asymptomatic |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000017.10:g.53895207 C>T (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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Position in protein | NA |
Amino acid changes in protein | NA > NA |
Position in cDNA | NA |
Changes in cDNA | NA > NA |
mRNA accession | NA |
mRNA length | NA |
Reference length | 81195210 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | 0.2417 |
CADD Raw score (version 1.3) | 0.457061 (Deleterious) |
FATHMM raw prediction score | 0.19399 (Tolerated) |
Deleterious probability by DeFine | 0.6807 (Deleterious) |
Entrez Gene ID | 58488 (NCBI Gene) |
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Official Gene Symbol | PCTP (GeneCards) |
Number of variants in PCTP in this database | 5 (view all the variants) |
Full name | phosphatidylcholine transfer protein |
Band | 17q22 |
Other IDs | Vega: OTTHUMG00000177859 OMIM: 606055 HGNC: HGNC:8752 Ensembl: ENSG00000141179 |
Other names | PC-TP, STARD2 |
Summary | None |
Individual ID | 29217584.03 (view all the variants in this individual) |
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Pubmed ID | 29217584 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 29217584 |
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Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
Journal | Science |
Publication date | 2018.02 |
Disease | Cockayne syndrome Xeroderma Pigmentosum |
Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |