| Variant ID | 843 |
|---|---|
| Entrez Gene ID | 359710 |
| Gene | BPIFB3 (GeneCards) |
| Location | hg19 20:31660560-31660560
hg38 20:33072754-33072754 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000020.10:g.31660560 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 454 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7936 |
| CADD Raw score (version 1.3) | -0.871487 (Deleterious) |
| FATHMM raw prediction score | 0.91514 (Tolerated) |
| Deleterious probability by DeFine | 0.8462 (Deleterious) |
| Entrez Gene ID | 359710 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BPIFB3 (GeneCards) |
| Number of variants in BPIFB3 in this database | 1 (view all the variants) |
| Full name | BPI fold containing family B member 3 |
| Band | 20q11.21 |
| Other IDs | Vega: OTTHUMG00000032234 OMIM: 615717 HGNC: HGNC:16178 Ensembl: ENSG00000186190 |
| Other names | RYA3, LPLUNC3, C20orf185 |
| Summary | None |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |