Overview

Variant ID 25576
Entrez Gene ID 202020
Gene TAPT1-AS1 (GeneCards)
Location hg19 4:16327464-16327464
hg38 4:16325841-16325841
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000004.11:g.16327464 G>T (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 191154276

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2018
CADD Raw score (version 1.3) -0.171939 (Deleterious)
FATHMM raw prediction score 0.08965 (Tolerated)
Deleterious probability by DeFine 0.4679 (Neutral)
Entrez Gene ID 202020 (NCBI Gene)
Official Gene Symbol TAPT1-AS1 (GeneCards)
Number of variants in TAPT1-AS1 in this database 2 (view all the variants)
Full name TAPT1 antisense RNA 1 (head to head)
Band 4p15.32
Other IDs HGNC: HGNC:26832
Ensembl: ENSG00000263327
Other names None
Summary None

Individual #1

Individual ID 29217587.02 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID