| Variant ID | 26455 |
|---|---|
| Entrez Gene ID | 102723427 |
| Gene | LOC102723427 (GeneCards) |
| Location | hg19 7:68564077-68564077
hg38 7:69099090-69099090 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000007.13:g.68564077 C>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0.0005 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs116172112 |
| EIGEN score | 1.2518 |
| CADD Raw score (version 1.3) | 2.181611 (Deleterious) |
| FATHMM raw prediction score | 0.94352 (Tolerated) |
| Deleterious probability by DeFine | 0.8147 (Deleterious) |
| Entrez Gene ID | 102723427 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOC102723427 (GeneCards) |
| Number of variants in LOC102723427 in this database | 16 (view all the variants) |
| Full name | uncharacterized LOC102723427 |
| Band | 7q11.22 |
| Other IDs | Ensembl: ENSG00000225209 |
| Other names | None |
| Summary | None |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |