| Variant ID | 70 |
|---|---|
| Entrez Gene ID | 56172 |
| Gene | ANKH (GeneCards) |
| Location | hg19 5:14716831-14716833
hg38 5:14716722-14716724 |
| Disease | Autosomal dominant craniometaphyseal dysplasia (view all the variants in this disease) |
| Method | TAcloning |
| Mutation(HGVS format) | NC_000005.9:g.14716831_14716833 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 9 |
| Position in protein | 375 |
| Amino acid changes in protein | S > * |
| Position in cDNA | 1123 |
| Changes in cDNA | NA > NA |
| Indel | delTCC |
| mRNA accession | NM_054027.4 |
| mRNA length | 1479 |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs121908406 |
| Deleterious probability by DeFine | 0.8832 (Deleterious) |
| 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 | 23421944.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 23421944 |
| Whose mosaic mutation | Mother |
| Phenotype | 1 |
| Number of affected children | 1 ( female: 1; ) |
| Disease | Autosomal dominant craniometaphyseal dysplasia (view all the variants in this disease) |
| OMIM ID | 123000 |
| Pubmed ID | 23421944 |
|---|---|
| Title | Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia |
| Journal | Official Journal of the Japan Pediatric Society |
| Publication date | 2013.04 |
| Disease | Autosomal dominant craniometaphyseal dysplasia |
| Number of cases | Female cases: 1; |