| Variant ID | 11539 |
|---|---|
| Entrez Gene ID | 375612 |
| Gene | LHFPL3 (GeneCards) |
| Location | hg19 7:104378783-104378783
hg38 7:104738336-104738336 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.104378783 G>A (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | 0.0219 |
| CADD Raw score (version 1.3) | 0.128576 (Deleterious) |
| FATHMM raw prediction score | 0.13885 (Tolerated) |
| Deleterious probability by DeFine | 0.5645 (Deleterious) |
| Entrez Gene ID | 375612 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LHFPL3 (GeneCards) |
| Number of variants in LHFPL3 in this database | 10 (view all the variants) |
| Full name | LHFPL tetraspan subfamily member 3 |
| Band | 7q22.2-q22.3 |
| Other IDs | Vega: OTTHUMG00000157273 OMIM: 609719 HGNC: HGNC:6589 Ensembl: ENSG00000187416 |
| Other names | LHFPL4 |
| Summary | This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |