Variant ID | 6707 |
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Entrez Gene ID | 5470 |
Gene | PPEF2 (GeneCards) |
Location | hg19 4:76828691-76828691
hg38 4:75907538-75907538 |
Disease | Asymptomatic |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000004.11:g.76828691 G>A (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 | 191154276 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.6662 |
CADD Raw score (version 1.3) | -0.515935 (Deleterious) |
FATHMM raw prediction score | 0.04241 (Tolerated) |
Deleterious probability by DeFine | 0.0744 (Neutral) |
Entrez Gene ID | 5470 (NCBI Gene) |
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Official Gene Symbol | PPEF2 (GeneCards) |
Number of variants in PPEF2 in this database | 2 (view all the variants) |
Full name | protein phosphatase with EF-hand domain 2 |
Band | 4q21.1 |
Other IDs | Vega: OTTHUMG00000160915 OMIM: 602256 HGNC: HGNC:9244 Ensembl: ENSG00000156194 |
Other names | PPP7CB |
Summary | This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008] |
Individual ID | 29217584.12 (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; |