| Variant ID | 21998 |
|---|---|
| Entrez Gene ID | 494118 |
| Gene | SPANXN1 (GeneCards) |
| Location | hg19 X:144859092-144859092
hg38 X:145777574-145777574 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.144859092 T>A (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) | -0.042815 (Deleterious) |
| FATHMM raw prediction score | 0.05925 (Tolerated) |
| Deleterious probability by DeFine | 0.1467 (Neutral) |
| Entrez Gene ID | 494118 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPANXN1 (GeneCards) |
| Number of variants in SPANXN1 in this database | 5 (view all the variants) |
| Full name | SPANX family member N1 |
| Band | Xq27.3 |
| Other IDs | Vega: OTTHUMG00000022593 OMIM: 300664 HGNC: HGNC:33174 Ensembl: ENSG00000203923 |
| Other names | CT11.6 |
| Summary | This gene represents one of several duplicated family members that are located on chromosome X. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, May 2010] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |