| Variant ID | 2813 |
|---|---|
| Entrez Gene ID | 126859 |
| Gene | AXDND1 (GeneCards) |
| Location | hg19 1:179363553-179363553
hg38 1:179394418-179394418 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.179363553 A>C (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8973 |
| CADD Raw score (version 1.3) | -0.456395 (Deleterious) |
| FATHMM raw prediction score | 0.04303 (Tolerated) |
| Deleterious probability by DeFine | 0.31 (Neutral) |
| Entrez Gene ID | 126859 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AXDND1 (GeneCards) |
| Number of variants in AXDND1 in this database | 3 (view all the variants) |
| Full name | axonemal dynein light chain domain containing 1 |
| Band | 1q25.2 |
| Other IDs | Vega: OTTHUMG00000035266 HGNC: HGNC:26564 Ensembl: ENSG00000162779 |
| Other names | C1orf125 |
| 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; |