| Variant ID | 5178 |
|---|---|
| Entrez Gene ID | 100288428 |
| Gene | LMCD1-AS1 (GeneCards) |
| Location | hg19 3:8348840-8348840
hg38 3:8307152-8307152 |
| Disease | |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.8348840 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | -0.3138 |
| CADD Raw score (version 1.3) | -0.048912 (Deleterious) |
| FATHMM raw prediction score | 0.07632 (Tolerated) |
| Deleterious probability by DeFine | 0.2103 (Neutral) |
| Entrez Gene ID | 100288428 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LMCD1-AS1 (GeneCards) |
| Number of variants in LMCD1-AS1 in this database | 7 (view all the variants) |
| Full name | LMCD1 antisense RNA 1 |
| Band | 3p25.3 |
| Other IDs | HGNC: HGNC:44477 Ensembl: ENSG00000227110 |
| Other names | None |
| Summary | None |
| 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; |