| Variant ID | 8783 |
|---|---|
| Entrez Gene ID | 309 |
| Gene | ANXA6 (GeneCards) |
| Location | hg19 5:150486313-150486313
hg38 5:151106752-151106752 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.150486313 A>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 | -0.1374 |
| CADD Raw score (version 1.3) | 0.375967 (Deleterious) |
| FATHMM raw prediction score | 0.13566 (Tolerated) |
| Deleterious probability by DeFine | 0.3235 (Neutral) |
| Entrez Gene ID | 309 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANXA6 (GeneCards) |
| Number of variants in ANXA6 in this database | 3 (view all the variants) |
| Full name | annexin A6 |
| Band | 5q33.1 |
| Other IDs | Vega: OTTHUMG00000164179 OMIM: 114070 HGNC: HGNC:544 Ensembl: ENSG00000197043 |
| Other names | p68, p70, ANX6, CBP68, CPB-II |
| Summary | Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010] |
| Individual ID | 29217584.22 (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; |