Full data view for gene TREM2

Information The variants shown are described using the NM_018965.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Reference     

dbSNP ID     

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Frequency     

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VIP     

Methylation     

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Technique     

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Disease     

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Panel size     

Owner     
+/+ 1 c.40G>T - r.0 p.0 Both (homozygous) g.41130781C>A - 40G>T, last position of exon 1: r.0 (Glu14Stp) - TREM2_000001 1 German PLOSL patient (hom) PubMed: Paloneva et al. 2003 - SUMMARY record ? - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1i c.40+3_40+5delAGG - r.40+3delagg p.= Both (homozygous) g.41130776_41130778delCCT - 40+3delAGG - TREM2_000002 1 Lebanese Maronite PLOSL family (hom); functional studies show significantly-reduced transcription of the allele PubMed: Chouery et al. 2008 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.97C>T - r.(97c>u) p.(Gln33*) Both (homozygous) g.41129295G>A - 191 C>T - TREM2_000003 2 Italian (hom) and 1 Belgian PLOSL family PubMed: Soragna et al. 2003, PubMed: Klünemann et al. 2005, PubMed: Bock et al. 2013 rs104894002 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.132G>A - r.(132g>a) p.(Trp44*) Both (homozygous) g.41129260C>T - 132G>A - TREM2_000004 1 Bolivian PLOSL patient (hom) PubMed: Paloneva et al. 2002 rs104894001 SUMMARY record ? 0/100 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.233G>A - r.(233g>a) p.(Trp78*) Both (homozygous) g.41129159C>T - 233G>A - TREM2_000005 2 Swedish PLOSL families (hom) PubMed: Paloneva et al. 2002 rs104893998 SUMMARY record yes 0/100 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.269delG - r.(269delg) p.(Gly90Valfs*99) Both (homozygous) g.41129123delC - 267delG - TREM2_000006 1 French (Turkish) PLOSL family (hom) PubMed: Klünemann et al. 2005 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.313delG - r.(313delg) p.(Ala105Argfs*84) Both (homozygous) g.41129079delC - - - TREM2_000007 1 German PLOSL family (hom) PubMed: Klünemann et al. 2005 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.377T>G - r.(377u>g) p.(Val126Gly) Both (homozygous) g.41129015A>C - - - TREM2_000008 1 Canadian PLOSL family (hom) PubMed: Klünemann et al. 2005 rs121908402 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.401A>G - r.(401a>g) p.(Asp134Gly) Both (homozygous) g.41127611T>C - 401A→G - TREM2_000009 1 American PLOSL patient (hom) PubMed: Paloneva et al. 2002 rs28939079 SUMMARY record yes 0/100 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 3i c.482+2T>C - r.[391_482del, 391_677del, 40_482del, 40_677del] p.[Asp131_Arg161del, Asp131Alafs*59, Glu14_Arg161del, Glu14Alafs*59] Both (homozygous) g.41127528A>G - 482+2T>C - TREM2_000010 1 Italian PLOSL family (hom) and 1 Japanese PLOSL family (hom) PubMed: Paloneva et al. 2002, PubMed: Numasawa et al. 2011 - SUMMARY record yes 0/100 CON - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 5 c.558G>T - r.(558g>u) p.(Lys186Asn) Both (homozygous) g.41126729C>T - 558G>A, K186N (corr: 558G>T) - TREM2_000011 1 Norwegian PLOSL family (hom) PubMed: Paloneva et al. 2002 rs28937876 SUMMARY record yes 0/100 CON - - - - - - - - - - - - - - - - - - - - -
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