| Variant ID | 34624 |
|---|---|
| Entrez Gene ID | 3547 |
| Gene | IGSF1 (GeneCards) |
| Location | hg19 X:130419389-130419389
hg38 X:131285415-131285415 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000023.10:g.130419389 G>A (Genome Assembly: hg19) |
| Exon or Intron | missense |
|---|---|
| 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.216745 (Deleterious) |
| FATHMM raw prediction score | 0.03672 (Tolerated) |
| SIFT score | 0.245 (Tolerated) |
| LRT score | 0.62 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.08 (Tolerated) |
| PROVEAN score | -0.56 (Tolerated) |
| MetaSVM score | -0.976 (Tolerated) |
| MetaLR score | 0.034 (Tolerated) |
| MCAP score | 0.008 (Tolerated) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.1 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.845 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.06 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.654 |
| Deleterious probability by iFish2 | 0.0044 (Neutral) |
| Deleterious probability by DeFine | 0.823 (Deleterious) |
| Entrez Gene ID | 3547 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IGSF1 (GeneCards) |
| Number of variants in IGSF1 in this database | 6 (view all the variants) |
| Full name | immunoglobulin superfamily member 1 |
| Band | Xq26.1 |
| Other IDs | Vega: OTTHUMG00000022406 OMIM: 300137 HGNC: HGNC:5948 Ensembl: ENSG00000147255 |
| Other names | CHTE, p120, IGCD1, IGDC1, INHBP, PGSF2 |
| Summary | This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] |
| 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; |