AutismKB 2.0

Variant Details for MT1A


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Basic Information Top
Gene Symbol:MT1A ( MGC32848,MT1,MT1S,MTC )
Gene Full Name: metallothionein 1A
Band: 16q13
Quick LinksEntrez ID:4489; OMIM: 156350; Uniprot ID:MT1A_HUMAN; ENSEMBL ID: ENSG00000205362; HGNC ID: 7393
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 4 0 0 0 0 0 4
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000275 16 16q13-22 55942499 74742499 18800000 loss external link Wassink, 2001
AutCNV0003395 16 16q13 56501806 56650474 148668 gain external link Gai, 2011
AutCNV0003394 16 16q13 56484820 56650474 165654 gain external link Gai, 2011
AutCNV0004152 16 16q13 56660104 56715679 55575 gain external link Levy, 2011
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
No related data!
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
No related data!




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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018