| Variant ID | 18287 |
|---|---|
| Entrez Gene ID | 55640 |
| Gene | FLVCR2 (GeneCards) |
| Location | hg19 14:76086701-76086701
hg38 14:75620358-75620358 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.76086701 G>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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0192 |
| CADD Raw score (version 1.3) | -0.271816 (Deleterious) |
| FATHMM raw prediction score | 0.12265 (Tolerated) |
| Deleterious probability by DeFine | 0.6538 (Deleterious) |
| Entrez Gene ID | 55640 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FLVCR2 (GeneCards) |
| Number of variants in FLVCR2 in this database | 3 (view all the variants) |
| Full name | feline leukemia virus subgroup C cellular receptor family member 2 |
| Band | 14q24.3 |
| Other IDs | Vega: OTTHUMG00000171487 OMIM: 610865 HGNC: HGNC:20105 Ensembl: ENSG00000119686 |
| Other names | CCT, EPV, PVHH, MFSD7C, C14orf58, FLVCRL14q |
| Summary | This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010] |
| Individual ID | 29217584.09 (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; |