Variant ID | 26750 |
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Entrez Gene ID | 497634 |
Gene | LINC00293 (GeneCards) |
Location | hg19 8:47833272-47833272
hg38 8:46921650-46921650 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000008.10:g.47833272 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 | 146364022 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.1864 |
CADD Raw score (version 1.3) | 0.590688 (Deleterious) |
FATHMM raw prediction score | 0.1434 (Tolerated) |
Deleterious probability by DeFine | 0.1184 (Neutral) |
Entrez Gene ID | 497634 (NCBI Gene) |
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Official Gene Symbol | LINC00293 (GeneCards) |
Number of variants in LINC00293 in this database | 5 (view all the variants) |
Full name | long intergenic non-protein coding RNA 293 |
Band | 8q11.1 |
Other IDs | OMIM: 609543 HGNC: HGNC:39078 |
Other names | BEYLA, NCRNA00293 |
Summary | None |
Individual ID | 29217587.03 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |