Variant Details for SFTPD
Basic Information Top
| Gene Symbol: | SFTPD ( COLEC7,PSP-D,SFTP4,SP-D ) |
|---|---|
| Gene Full Name: | surfactant protein D |
| Band: | 10q22.3 |
| Quick Links | Entrez ID:6441; OMIM: 178635; Uniprot ID:SFTPD_HUMAN; ENSEMBL ID: ENSG00000133661; HGNC ID: 10803 |
| 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 | 2 | 3 | 0 | 0 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000198 | 10 | 10q22.3-23.3 | 81634020 | 89221020 | 7587000 | loss | external link | Balciuniene, 2007 |
| AutCNV0002751 | 10 | 10q22.3 | 81562037 | 81984564 | 422527 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 81702258 | G | A | c.319C>T | p.Pro107Ser | Sanger sequencing | deleterious | 0.6319 | Jiang YH, 2013 |
| 10 | 81702258 | G | A | Sanger sequencing | deleterious | 0.6319 | Yuen RK, 2016 | ||
| 10 | 81702258 | c.C319T | deleterious | 0.6319 | Jiang YH, 2013 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000036 | 10q22.3 | 10 | D10S201 | 1.22 | - | - | Monaco, 2001 |