| Variant ID | 8830 |
|---|---|
| Entrez Gene ID | 56172 |
| Gene | ANKH (GeneCards) |
| Location | hg19 5:14950195-14950195
hg38 5:14950086-14950086 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.14950195 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3475 |
| CADD Raw score (version 1.3) | -0.211246 (Deleterious) |
| FATHMM raw prediction score | 0.08293 (Tolerated) |
| Deleterious probability by DeFine | 0.3134 (Neutral) |
| Entrez Gene ID | 56172 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANKH (GeneCards) |
| Number of variants in ANKH in this database | 8 (view all the variants) |
| Full name | ANKH inorganic pyrophosphate transport regulator |
| Band | 5p15.2 |
| Other IDs | Vega: OTTHUMG00000090539 OMIM: 605145 HGNC: HGNC:15492 Ensembl: ENSG00000154122 |
| Other names | ANK, CMDJ, HANK, MANK, CCAL2, CPPDD, SLC62A1 |
| Summary | This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 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; |