AutismKB 2.0

Variant Details for RIN3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RIN3 ( DKFZp762H1613,FLJ11700,FLJ22439 )
Gene Full Name: Ras and Rab interactor 3
Band: 14q32.13
Quick LinksEntrez ID:79890; OMIM: 610223; Uniprot ID:RIN3_HUMAN; ENSEMBL ID: ENSG00000100599; HGNC ID: 18751
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

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 0 1 1 0 0 0 2
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
No related data!
NGS de novo Mutations Top
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
14 93118106 A G Sanger sequencingneutral0.2398 De Rubeis S, 2014
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference