| Variant ID | 6129 |
|---|---|
| Entrez Gene ID | 79633 |
| Gene | FAT4 (GeneCards) |
| Location | hg19 4:126361299-126361299
hg38 4:125440144-125440144 |
| Disease | Asymptomatic |
| Method | HiSeq 2000 |
| Mutation(HGVS format) | NC_000004.11:g.126361299 T>A (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0832 |
| CADD Raw score (version 1.3) | 0.342768 (Deleterious) |
| FATHMM raw prediction score | 0.11598 (Tolerated) |
| Deleterious probability by DeFine | 0.2963 (Neutral) |
| Entrez Gene ID | 79633 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAT4 (GeneCards) |
| Number of variants in FAT4 in this database | 149 (view all the variants) |
| Full name | FAT atypical cadherin 4 |
| Band | 4q28.1 |
| Other IDs | Vega: OTTHUMG00000133100 OMIM: 612411 HGNC: HGNC:23109 Ensembl: ENSG00000196159 |
| Other names | FATJ, FAT-J, CDHF14, CDHR11, HKLLS2, VMLDS2, NBLA00548 |
| Summary | The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014] |
| Individual ID | 29217584.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |