Overview

Variant ID 26768
Entrez Gene ID 497634
Gene LINC00293 (GeneCards)
Location hg19 8:47766653-47766653
hg38 8:46855031-46855031
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000008.10:g.47766653 A>G (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3892
CADD Raw score (version 1.3) 0.382121 (Deleterious)
FATHMM raw prediction score 0.05397 (Tolerated)
Deleterious probability by DeFine 0.0618 (Neutral)
Entrez Gene ID 497634 (NCBI Gene)
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 #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID