Variant ID | 23915 |
---|---|
Entrez Gene ID | 284034 |
Gene | LINC00670 (GeneCards) |
Location | hg19 17:12533938-12533938
hg38 17:12630621-12630621 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000017.10:g.12533938 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 | 81195210 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.3233 |
CADD Raw score (version 1.3) | -0.244889 (Deleterious) |
FATHMM raw prediction score | 0.0507 (Tolerated) |
Deleterious probability by DeFine | 0.4601 (Neutral) |
Entrez Gene ID | 284034 (NCBI Gene) |
---|---|
Official Gene Symbol | LINC00670 (GeneCards) |
Number of variants in LINC00670 in this database | 2 (view all the variants) |
Full name | long intergenic non-protein coding RNA 670 |
Band | 17p12 |
Other IDs | HGNC: HGNC:44338 Ensembl: ENSG00000179136 |
Other names | None |
Summary | None |
Individual ID | 29217587.01 (view all the variants in this individual) |
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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; |