Variant ID | 26926 |
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Entrez Gene ID | 286238 |
Gene | LOC286238 (GeneCards) |
Location | hg19 9:91326223-91326223
hg38 9:88711308-88711308 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000009.11:g.91326223 T>C (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 | 141213431 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.2429 |
CADD Raw score (version 1.3) | -0.005878 (Deleterious) |
FATHMM raw prediction score | 0.0846 (Tolerated) |
Deleterious probability by DeFine | 0.3267 (Neutral) |
Entrez Gene ID | 286238 (NCBI Gene) |
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Official Gene Symbol | LOC286238 (GeneCards) |
Number of variants in LOC286238 in this database | 3 (view all the variants) |
Full name | uncharacterized LOC286238 |
Band | 9q22.1 |
Other IDs | Ensembl: ENSG00000228189 |
Other names | None |
Summary | None |
Individual ID | 29217587.03 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |