Variant Details for FAHD1
Basic Information Top
| Gene Symbol: | FAHD1 ( C16orf36,DKFZp566J2046,MGC74876,YISKL ) |
|---|---|
| Gene Full Name: | fumarylacetoacetate hydrolase domain containing 1 |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:81889; OMIM: NA; Uniprot ID:FAHD1_HUMAN; ENSEMBL ID: ENSG00000180185; HGNC ID: 14169 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 1 | 4 | 0 | 0 | 0 | 2 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001476 | 16 | 16p13.3 | 1800645 | 1962132 | 161487 | loss | external link | Pinto, 2010 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 1877625 | p.Ser132Thr | Sanger sequencing | Hashimoto R, 2016 | |||||
| 16 | 1877669 | p.Lys147Gln | Sanger sequencing | Hashimoto R, 2016 | |||||
| 16 | 1883253 | C | A | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 16 | 1883254 | C | A | Sanger and Sequenom | Michaelson JJ, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000091 | 16p13 | 16 | D16S2619 | - | 2.17 | - | Buxbaum, 2004 |
| AutLD0000138 | 16p13.3 | 16 | D16S748 | - | - | 0.00117 | Lauritsen, 2006 |