| Variant ID | 10281 |
|---|---|
| Entrez Gene ID | 114781 |
| Gene | BTBD9 (GeneCards) |
| Location | hg19 6:38469232-38469232
hg38 6:38501456-38501456 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.38469232 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2691 |
| CADD Raw score (version 1.3) | 0.493208 (Deleterious) |
| FATHMM raw prediction score | 0.48263 (Tolerated) |
| Deleterious probability by DeFine | 0.3471 (Neutral) |
| Entrez Gene ID | 114781 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BTBD9 (GeneCards) |
| Number of variants in BTBD9 in this database | 8 (view all the variants) |
| Full name | BTB domain containing 9 |
| Band | 6p21.2 |
| Other IDs | Vega: OTTHUMG00000014634 OMIM: 611237 HGNC: HGNC:21228 Ensembl: ENSG00000183826 |
| Other names | dJ322I12.1 |
| Summary | This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 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; |