| Variant ID | 803 |
|---|---|
| Entrez Gene ID | 347365 |
| Gene | ITIH6 (GeneCards) |
| Location | hg19 X:54783576-54783576
hg38 X:54757143-54757143 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.54783576 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 977 |
| Amino acid changes in protein | P > P |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.614984 (Deleterious) |
| FATHMM raw prediction score | 0.17522 (Tolerated) |
| Deleterious probability by DeFine | 0.7461 (Deleterious) |
| Entrez Gene ID | 347365 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ITIH6 (GeneCards) |
| Number of variants in ITIH6 in this database | 1 (view all the variants) |
| Full name | inter-alpha-trypsin inhibitor heavy chain family member 6 |
| Band | Xp11.22 |
| Other IDs | Vega: OTTHUMG00000021634 HGNC: HGNC:28907 Ensembl: ENSG00000102313 |
| Other names | ITIH5L, UNQ6369, dJ14O9.1 |
| Summary | The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009] |
| 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; |