Variant Details for FBRS


Gene Symbol: | FBRS ( FBS,FBS1,FLJ11618 ) |
---|---|
Gene Full Name: | fibrosin |
Band: | 16p11.2 |
Quick Links | Entrez ID:64319; OMIM: 608601; Uniprot ID:FBSH_HUMAN; ENSEMBL ID: ENSG00000156860; HGNC ID: 20442 |
Relate to Another Database: | SFARIGene; denovo-db |


Click 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 | 7 | 2 | 0 | 0 | 0 | 0 | 9 |


CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000260 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Finelli, 2004 |
AutCNV0000186 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Marshall, 2008 |
AutCNV0000152 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Marshall, 2008 |
AutCNV0000018 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | loss | external link | Weiss, 2008 |
AutCNV0000017 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Weiss, 2008 |
AutCNV0000370 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | external link | Zwaag, 2009 | |
AutCNV0000369 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | external link | Zwaag, 2009 |


iFish (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 | 30679970 | T | C | strong | Iossifov I, 2014 | ||||
16 | 30676715 | A | C | Sanger sequencing | deleterious | 0.5129 | Yuen RK, 2016 |


Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
---|---|---|---|---|---|---|
No related data! |


Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |


Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |


Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
---|---|---|---|---|---|---|---|
No related data! |