| Variant ID | 1371 |
|---|---|
| Entrez Gene ID | 55640 |
| Gene | FLVCR2 (GeneCards) |
| Location | hg19 14:76045663-76045663
hg38 14:75579320-75579320 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000014.8:g.76045663_76045663 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_017791.2 |
| mRNA length | 3669 |
| Reference length | 107349540 |
| Deleterious probability by DeFine | 0.9454 (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 | 28867142.71 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |