Overview

Variant ID 24548
Entrez Gene ID 116461
Gene TSEN15 (GeneCards)
Location hg19 1:184125186-184125186
hg38 1:184156052-184156052
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000001.10:g.184125186 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 249250621

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3339
CADD Raw score (version 1.3) -0.007328 (Deleterious)
FATHMM raw prediction score 0.08114 (Tolerated)
Deleterious probability by DeFine 0.0846 (Neutral)
Entrez Gene ID 116461 (NCBI Gene)
Official Gene Symbol TSEN15 (GeneCards)
Number of variants in TSEN15 in this database 3 (view all the variants)
Full name tRNA splicing endonuclease subunit 15
Band 1q25.3
Other IDs Vega: OTTHUMG00000035461
OMIM: 608756
HGNC: HGNC:16791
Ensembl: ENSG00000198860
Other names PCH2F, sen15, C1orf19
Summary This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by RefSeq, Jul 2014]

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