| Variant ID | 11296 |
|---|---|
| Entrez Gene ID | 101928211 |
| Gene | LOC101928211 (GeneCards) |
| Location | hg19 7:124359199-124359199
hg38 7:124719145-124719145 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.124359199 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) | 0.0000969 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs151165396 |
| EIGEN score | 0.1975 |
| CADD Raw score (version 1.3) | 0.331706 (Deleterious) |
| FATHMM raw prediction score | 0.08336 (Tolerated) |
| Deleterious probability by DeFine | 0.5185 (Deleterious) |
| Entrez Gene ID | 101928211 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LOC101928211 (GeneCards) |
| Number of variants in LOC101928211 in this database | 8 (view all the variants) |
| Full name | uncharacterized LOC101928211 |
| Band | 7q31.33 |
| Other IDs | None: |
| Other names | None |
| Summary | None |
| Individual ID | 29217584.15 (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; |