Variant ID | 23493 |
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Entrez Gene ID | 101927381 |
Gene | LINC01163 (GeneCards) |
Location | hg19 10:130352645-130352645
hg38 10:128554381-128554381 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000010.10:g.130352645 C>G (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 | 135534747 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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CADD Raw score (version 1.3) | -0.293447 (Deleterious) |
FATHMM raw prediction score | 0.07257 (Tolerated) |
Deleterious probability by DeFine | 0.286 (Neutral) |
Entrez Gene ID | 101927381 (NCBI Gene) |
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Official Gene Symbol | LINC01163 (GeneCards) |
Number of variants in LINC01163 in this database | 10 (view all the variants) |
Full name | long intergenic non-protein coding RNA 1163 |
Band | 10q26.2 |
Other IDs | HGNC: HGNC:49530 Ensembl: ENSG00000280953 |
Other names | TCONS_00017722 |
Summary | None |
Individual ID | 29217587.01 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 29217587 |
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Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
Journal | Science |
Publication date | 2018.02 |
Disease | Asymptomatic |
Number of cases | cases of unknown sex: 3; |