Variant Details for ABCA7
Basic Information Top
| Gene Symbol: | ABCA7 ( ABCA-SSN,ABCX,FLJ40025 ) |
|---|---|
| Gene Full Name: | ATP-binding cassette, sub-family A (ABC1), member 7 |
| Band: | 19p13.3 |
| Quick Links | Entrez ID:10347; OMIM: 605414; Uniprot ID:ABCA7_HUMAN; ENSEMBL ID: ENSG00000064687; HGNC ID: 37 |
| 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 | 0 | 1 | 0 | 0 | 10 | 1 | 12 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 1063613 | G | A | PCR or Sanger sequencing | deleterious | 0.9867 | Iossifov I, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 1043788 | c.995G>A | p.Gly332Glu | N | He Z, 2014 | ||||
| 19 | 1045109 | c.1324G>A | p.Gly442Arg | N | He Z, 2014 | ||||
| 19 | 1046317 | c.1534C>G | p.Arg512Gly | N | He Z, 2014 | ||||
| 19 | 1050996 | c.2629G>A | p.Ala877Thr | N | He Z, 2014 | ||||
| 19 | 1051481 | c.2858C>A | p.Ala953Asp | N | He Z, 2014 | ||||
| 19 | 1057343 | c.4795G>A | p.Val1599Met | N | He Z, 2014 | ||||
| 19 | 1058883 | c.5344C>T | p.Arg1782Trp | N | He Z, 2014 | ||||
| 19 | 1059056 | c.5435G>A | p.Arg1812His | N | He Z, 2014 | ||||
| 19 | 1062248 | c.5648C>T | p.Thr1883Met | N | He Z, 2014 | ||||
| 19 | 1065305 | c.6322G>A | p.Glu2108Lys | N | He Z, 2014 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000068 | 19p13.3 | 19 | D19S209 | - | - | 0.003 | Schellenberg, 2006 |