| Variant ID | 23103 |
|---|---|
| Entrez Gene ID | 57497 |
| Gene | LRFN2 (GeneCards) |
| Location | hg19 6:40564163-40564163
hg38 6:40596424-40596424 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000006.11:g.40564163 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1856 |
| CADD Raw score (version 1.3) | 0.415486 (Deleterious) |
| FATHMM raw prediction score | 0.22971 (Tolerated) |
| Deleterious probability by DeFine | 0.437 (Neutral) |
| Entrez Gene ID | 57497 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LRFN2 (GeneCards) |
| Number of variants in LRFN2 in this database | 12 (view all the variants) |
| Full name | leucine rich repeat and fibronectin type III domain containing 2 |
| Band | 6p21.2-p21.1 |
| Other IDs | Vega: OTTHUMG00000014662 OMIM: 612808 HGNC: HGNC:21226 Ensembl: ENSG00000156564 |
| Other names | SALM1, FIGLER2, KIAA1246 |
| Summary | None |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |