Variant ID | 11678 |
---|---|
Entrez Gene ID | 103352670 |
Gene | LINC01419 (GeneCards) |
Location | hg19 8:84602180-84602180
hg38 8:83689945-83689945 |
Disease | Asymptomatic |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000008.10:g.84602180 T>C (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 | 146364022 |
MAF in gnomAD genome (version 2.0.1) | 0 |
---|---|
EIGEN score | 0.0049 |
CADD Raw score (version 1.3) | 0.007357 (Deleterious) |
FATHMM raw prediction score | 0.22942 (Tolerated) |
Deleterious probability by DeFine | 0.1921 (Neutral) |
Entrez Gene ID | 103352670 (NCBI Gene) |
---|---|
Official Gene Symbol | LINC01419 (GeneCards) |
Number of variants in LINC01419 in this database | 10 (view all the variants) |
Full name | long intergenic non-protein coding RNA 1419 |
Band | 8q21.13 |
Other IDs | HGNC: HGNC:50712 Ensembl: ENSG00000253898 |
Other names | LVCAT7, TCONS_00014497 |
Summary | None |
Individual ID | 29217584.03 (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; |