| Variant ID | 28862 |
|---|---|
| Entrez Gene ID | 3547 |
| Gene | IGSF1 (GeneCards) |
| Location | hg19 X:130580537-130580537
hg38 X:131446563-131446563 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000023.10:g.130580537 T>C (Genome Assembly: GRCh37) |
| 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.148157 (Deleterious) |
| FATHMM raw prediction score | 0.11117 (Tolerated) |
| Deleterious probability by DeFine | 0.2482 (Neutral) |
| 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 | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |