| Variant ID | 34549 |
|---|---|
| Entrez Gene ID | 51061 |
| Gene | TXNDC11 (GeneCards) |
| Location | hg19 16:11785236-11785236
hg38 16:11691380-11691380 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000016.9:g.11785236 G>A (Genome Assembly: hg19) |
| Exon or Intron | stop-gained |
|---|---|
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1724 |
| CADD Raw score (version 1.3) | 7.597743 (Deleterious) |
| FATHMM raw prediction score | 0.35038 (Tolerated) |
| LRT score | 0.152 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.81 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.146 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.352 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.262 |
| Deleterious probability by DeFine | 0.8466 (Deleterious) |
| Entrez Gene ID | 51061 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TXNDC11 (GeneCards) |
| Number of variants in TXNDC11 in this database | 3 (view all the variants) |
| Full name | thioredoxin domain containing 11 |
| Band | 16p13.13 |
| Other IDs | Vega: OTTHUMG00000177467 OMIM: 617792 HGNC: HGNC:28030 Ensembl: ENSG00000153066 |
| Other names | EFP1 |
| Summary | None |
| Individual ID | 24760347.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 24760347 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 24760347 |
|---|---|
| Title | Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis |
| Journal | Genome Research |
| Publication date | 2014.04 |
| Disease | Asymptomatic |
| Number of cases | Female cases: 1; |