| Variant ID | 13491 |
|---|---|
| Entrez Gene ID | 4781 |
| Gene | NFIB (GeneCards) |
| Location | hg19 9:14541380-14541380
hg38 9:14541382-14541382 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.14541380 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0.0055 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs137927515 |
| EIGEN score | -0.1004 |
| CADD Raw score (version 1.3) | -0.149376 (Deleterious) |
| FATHMM raw prediction score | 0.13131 (Tolerated) |
| Deleterious probability by DeFine | 0.3892 (Neutral) |
| Entrez Gene ID | 4781 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NFIB (GeneCards) |
| Number of variants in NFIB in this database | 4 (view all the variants) |
| Full name | nuclear factor I B |
| Band | 9p23-p22.3 |
| Other IDs | Vega: OTTHUMG00000021027 OMIM: 600728 HGNC: HGNC:7785 Ensembl: ENSG00000147862 |
| Other names | CTF, NF1-B, NFI-B, NFIB2, NFIB3, NF-I/B, NFI-RED, HMGIC/NFIB |
| Summary | None |
| Individual ID | 29217584.13 (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; |