| Variant ID | 21549 |
|---|---|
| Entrez Gene ID | 55544 |
| Gene | RBM38 (GeneCards) |
| Location | hg19 20:56006815-56006815
hg38 20:57431759-57431759 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.56006815 C>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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0.0033 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs113955149 |
| EIGEN score | -0.7587 |
| CADD Raw score (version 1.3) | -0.867578 (Deleterious) |
| FATHMM raw prediction score | 0.03438 (Tolerated) |
| Deleterious probability by DeFine | 0.368 (Neutral) |
| Entrez Gene ID | 55544 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RBM38 (GeneCards) |
| Number of variants in RBM38 in this database | 2 (view all the variants) |
| Full name | RNA binding motif protein 38 |
| Band | 20q13.31 |
| Other IDs | Vega: OTTHUMG00000032820 OMIM: 612428 HGNC: HGNC:15818 Ensembl: ENSG00000132819 |
| Other names | RNPC1, SEB4B, SEB4D, HSRNASEB, dJ800J21.2 |
| Summary | None |
| 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; |