Variant ID | 27754 |
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Entrez Gene ID | 102723968 |
Gene | LOC102723968 (GeneCards) |
Location | hg19 13:64902206-64902206
hg38 13:64328074-64328074 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000013.10:g.64902206 G>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 | 115169878 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.2219 |
CADD Raw score (version 1.3) | -0.355701 (Deleterious) |
FATHMM raw prediction score | 0.07463 (Tolerated) |
Deleterious probability by DeFine | 0.2881 (Neutral) |
Entrez Gene ID | 102723968 (NCBI Gene) |
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Official Gene Symbol | LOC102723968 (GeneCards) |
Number of variants in LOC102723968 in this database | 26 (view all the variants) |
Full name | uncharacterized LOC102723968 |
Band | 13q21.31 |
Other IDs | Ensembl: ENSG00000219926 |
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 |