| Variant ID | 27245 |
|---|---|
| Entrez Gene ID | 9873 |
| Gene | FCHSD2 (GeneCards) |
| Location | hg19 11:72919466-72919466
hg38 11:73208421-73208421 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.72919466 C>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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0063 |
| CADD Raw score (version 1.3) | 1.448813 (Deleterious) |
| FATHMM raw prediction score | 0.13313 (Tolerated) |
| Deleterious probability by DeFine | 0.3098 (Neutral) |
| Entrez Gene ID | 9873 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FCHSD2 (GeneCards) |
| Number of variants in FCHSD2 in this database | 2 (view all the variants) |
| Full name | FCH and double SH3 domains 2 |
| Band | 11q13.4 |
| Other IDs | Vega: OTTHUMG00000153082 OMIM: 617556 HGNC: HGNC:29114 Ensembl: ENSG00000137478 |
| Other names | NWK, SH3MD3 |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |