Variant ID | 19363 |
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Entrez Gene ID | 283867 |
Gene | LINC00922 (GeneCards) |
Location | hg19 16:65964362-65964362
hg38 16:65930459-65930459 |
Disease | Asymptomatic |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000016.9:g.65964362 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 | 90354753 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.201 |
CADD Raw score (version 1.3) | 0.49829 (Deleterious) |
FATHMM raw prediction score | 0.13778 (Tolerated) |
Deleterious probability by DeFine | 0.0489 (Neutral) |
Entrez Gene ID | 283867 (NCBI Gene) |
---|---|
Official Gene Symbol | LINC00922 (GeneCards) |
Number of variants in LINC00922 in this database | 15 (view all the variants) |
Full name | long intergenic non-protein coding RNA 922 |
Band | 16q21 |
Other IDs | HGNC: HGNC:27545 Ensembl: ENSG00000261742 |
Other names | None |
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; |