Full data view for gene TTI2

Information The variants shown are described using the NM_025115.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Gender     

Consanguinity     

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Age at death     

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Data_av     

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Panel size     

Owner     
?/. - c.127C>A r.(?) p.(Arg43=) Unknown - VUS g.33370005G>T - TTI2(NM_025115.3):c.127C>A (p.R43=) - MAK16_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.128del r.(?) p.(Arg43Hisfs*5) Unknown - VUS g.33370004del - TTI2(NM_025115.3):c.128delG (p.R43Hfs*5) - MAK16_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.130_131del r.(?) p.(Gly45Glnfs*8) Unknown - VUS g.33370001_33370002del - TTI2(NM_025115.3):c.130_131delCG (p.G45Qfs*8) - MAK16_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.138T>C r.(?) p.(Asn46=) Unknown - benign g.33369994A>G g.33512476A>G - - TTI2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.595G>T r.(?) p.(Glu199Ter) Unknown - pathogenic g.33369537C>A g.33512019C>A TTI2(NM_025115.4):c.595G>T (p.E199*) - TTI2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.605G>A r.(?) p.(Arg202Lys) Unknown - likely benign g.33369527C>T g.33512009C>T TTI2(NM_001102401.2):c.605G>A (p.(Arg202Lys)) - MAK16_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.796C>T r.(?) p.(Leu266=) Unknown - likely benign g.33367302G>A - TTI2(NM_025115.3):c.796C>T (p.L266=) - MAK16_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.866C>G r.(?) p.(Ala289Gly) Unknown - VUS g.33364808G>C - TTI2(NM_001102401.4):c.866C>G (p.(Ala289Gly)) - MAK16_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1000C>G r.(?) p.(Arg334Gly) Unknown - VUS g.33361381G>C - TTI2(NM_001102401.4):c.1000C>G (p.(Arg334Gly)) - MAK16_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007C>T r.(?) p.(Thr336Ile) Unknown - VUS g.33361374G>A - TTI2(NM_025115.3):c.1007C>T (p.T336I) - MAK16_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1063C>T r.(?) p.(Arg355Cys) Unknown - VUS g.33361318G>A g.33503800G>A TTI2(NM_001102401.2):c.1063C>T (p.(Arg355Cys)), TTI2(NM_025115.3):c.1063C>T (p.R355C), TTI2(NM_025115.5):c.1063C>T (p.R355C) - TTI2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1063C>T r.(?) p.(Arg355Cys) Unknown - likely benign g.33361318G>A g.33503800G>A TTI2(NM_001102401.2):c.1063C>T (p.(Arg355Cys)), TTI2(NM_025115.3):c.1063C>T (p.R355C), TTI2(NM_025115.5):c.1063C>T (p.R355C) - TTI2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1063C>T r.(?) p.(Arg355Cys) Parent #1 - VUS g.33361318G>A g.33503800G>A - - TTI2_000002 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138108276 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.1063C>T r.(?) p.(Arg355Cys) Unknown - likely benign g.33361318G>A - TTI2(NM_001102401.2):c.1063C>T (p.(Arg355Cys)), TTI2(NM_025115.3):c.1063C>T (p.R355C), TTI2(NM_025115.5):c.1063C>T (p.R355C) - TTI2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1100C>T r.(?) p.(Pro367Leu) Both (homozygous) - likely pathogenic g.33361281G>A g.33503763G>A P367L - TTI2_000005 not in 112 controls PubMed: Najmabadi 2011 - - Germline yes - - - - DNA SEQ - - ID FamM100 PubMed: Najmabadi 2011 family, 4 affected - yes Iran - - - - - 4 Johan den Dunnen
+?/. - c.1115+2T>C r.spl? p.? Unknown - likely pathogenic g.33361264A>G - TTI2(NM_025115.3):c.1115+2T>C - MAK16_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.1307T>A r.(?) p.(Ile436Asn) Both (homozygous) - pathogenic (recessive) g.33357961A>T g.33500443A>T - - TTI2_000001 - PubMed: Langouet 2013, Journal: Langouet 2013 - - Germline yes - - - - DNA SEQ-NG-S - - ID FamPatIII2/5/9 PubMed: Langouet 2013, Journal: Langouet 2013 3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M yes Algeria - - - - - 3 Laurence Colleaux
+?/. - c.1402T>C r.(?) p.(Cys468Arg) Both (homozygous) ACMG likely pathogenic g.33357866A>G g.33500348A>G - - TTI2_000006 ACMG PM1, PM2, PP2, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - 758-gene panel ID 14DG0038 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.1422G>A r.(?) p.(=) Unknown - VUS g.33357846C>T - TTI2(NM_001102401.4):c.1422G>A (p.(Lys474=)) - MAK16_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8854G>A r.(=) p.(=) Unknown - VUS g.33347837C>T - MAK16(NM_032509.4):c.427C>T (p.(Arg143Cys)) - MAK16_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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