Overview

Variant ID 24702
Entrez Gene ID 401014
Gene TEX41 (GeneCards)
Location hg19 2:146090111-146090111
hg38 2:145332543-145332543
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000002.11:g.146090111 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 243199373

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 1.0019
CADD Raw score (version 1.3) 1.845606 (Deleterious)
FATHMM raw prediction score 0.91969 (Tolerated)
Deleterious probability by DeFine 0.7063 (Deleterious)
Entrez Gene ID 401014 (NCBI Gene)
Official Gene Symbol TEX41 (GeneCards)
Number of variants in TEX41 in this database 21 (view all the variants)
Full name testis expressed 41
Band 2q22.3
Other IDs HGNC: HGNC:48667
Ensembl: ENSG00000226674
Other names LINC00953, DKFZp686O1327
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