AutismKB 2.0

Variant Details for FAM47A


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Basic Information Top
Gene Symbol:FAM47A ( MGC27003 )
Gene Full Name: family with sequence similarity 47, member A
Band: Xp21.1
Quick LinksEntrez ID:158724; OMIM: NA; Uniprot ID:FA47A_HUMAN; ENSEMBL ID: ENSG00000185448; HGNC ID: 29962
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 2 0 0 0 0 0 2
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000713 X Xp11.2-p22.33 60000 56583275 56523275 gain external link Edens, 2011