| Variant ID | 15879 |
|---|---|
| Entrez Gene ID | 57689 |
| Gene | LRRC4C (GeneCards) |
| Location | hg19 11:41049761-41049761
hg38 11:41028211-41028211 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.41049761 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003246 |
|---|---|
| EIGEN score | 0.1471 |
| CADD Raw score (version 1.3) | 0.62342 (Deleterious) |
| FATHMM raw prediction score | 0.06617 (Tolerated) |
| Deleterious probability by DeFine | 0.5891 (Deleterious) |
| Entrez Gene ID | 57689 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LRRC4C (GeneCards) |
| Number of variants in LRRC4C in this database | 24 (view all the variants) |
| Full name | leucine rich repeat containing 4C |
| Band | 11p12 |
| Other IDs | Vega: OTTHUMG00000166383 OMIM: 608817 HGNC: HGNC:29317 Ensembl: ENSG00000148948 |
| Other names | NGL1, NGL-1 |
| Summary | NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |