| Variant ID | 4529 |
|---|---|
| Entrez Gene ID | 64859 |
| Gene | NABP1 (GeneCards) |
| Location | hg19 2:192556803-192556803
hg38 2:191692077-191692077 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.192556803 G>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2738 |
| CADD Raw score (version 1.3) | -0.430282 (Deleterious) |
| FATHMM raw prediction score | 0.25463 (Tolerated) |
| Deleterious probability by DeFine | 0.6329 (Deleterious) |
| Entrez Gene ID | 64859 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NABP1 (GeneCards) |
| Number of variants in NABP1 in this database | 1 (view all the variants) |
| Full name | nucleic acid binding protein 1 |
| Band | 2q32.3 |
| Other IDs | Vega: OTTHUMG00000132720 OMIM: 612103 HGNC: HGNC:26232 Ensembl: ENSG00000173559 |
| Other names | SSB2, OBFC2A, SOSS-B2 |
| Summary | Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2A, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008] |
| 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; |