| Variant ID | 2821 |
|---|---|
| Entrez Gene ID | 84966 |
| Gene | IGSF21 (GeneCards) |
| Location | hg19 1:18756590-18756590
hg38 1:18430096-18430096 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.18756590 A>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1727 |
| CADD Raw score (version 1.3) | 0.038625 (Deleterious) |
| FATHMM raw prediction score | 0.19385 (Tolerated) |
| Deleterious probability by DeFine | 0.0776 (Neutral) |
| Entrez Gene ID | 84966 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IGSF21 (GeneCards) |
| Number of variants in IGSF21 in this database | 3 (view all the variants) |
| Full name | immunoglobin superfamily member 21 |
| Band | 1p36.13 |
| Other IDs | Vega: OTTHUMG00000002432 HGNC: HGNC:28246 Ensembl: ENSG00000117154 |
| Other names | None |
| Summary | This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Sep 2011] |
| Individual ID | 29217584.23 (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; |