| Variant ID | 22351 |
|---|---|
| Entrez Gene ID | 3547 |
| Gene | IGSF1 (GeneCards) |
| Location | hg19 X:130441957-130441957
hg38 X:131307983-131307983 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.130441957 T>G (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) | -0.097171 (Deleterious) |
| FATHMM raw prediction score | 0.08968 (Tolerated) |
| Deleterious probability by DeFine | 0.1871 (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 | 29217584.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |