Full data view for gene TNNI3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000363.4 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.433C>T r.(?) p.(Arg145Trp) Unknown - pathogenic g.55665514G>A g.55154146G>A TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W) - TNNI3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.433C>T r.(?) p.(Arg145Trp) Unknown - pathogenic g.55665514G>A g.55154146G>A TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W) - TNNI3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.433C>T r.(?) p.(Arg145Trp) Unknown - pathogenic g.55665514G>A g.55154146G>A TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W) - TNNI3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.433C>T r.(?) p.Arg145Trp Unknown - NA g.55665514G>A g.55154146G>A - - TNNI3_000026 - {PMID15961398:Gomes 2005} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A 799C>T - TNNI3_000026 - PubMed: Mogensen 2003, OMIM:var0008 - rs28934871 Unknown yes - AciI+ - - DNA SEQ - - RCM - PubMed: Mogensen 2003 2-generation family, 1 affected - - - - - - - - 1 Peikuan Cong
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A 799C>T - TNNI3_000026 - PubMed: Mogensen 2003, OMIM:var0008 - rs28934871 Unknown yes - AciI+ - - DNA SEQ - - RCM - PubMed: Mogensen 2003 2-generation family, 1 affected - - - - - - - - 1 Peikuan Cong
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A Arg145Trp - TNNI3_000026 - PubMed: Mogensen 2004 - rs28934871 Germline no 1/280 cases - - - DNA SEQ - - CMH - PubMed: Mogensen 2004 3-generation family, 2 affected, 2 asymptomatic carrier - - Denmark white - - - - 4 Johan den Dunnen
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A Arg145Trp - TNNI3_000026 - PubMed: Mogensen 2004 - rs28934871 Germline no 1/280 cases - - - DNA SEQ - - CMH - PubMed: Mogensen 2004 4-generation family, 3 affecteds, 7 asymptomatic carrier - - Denmark white - - - - 10 Johan den Dunnen
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A Arg145Trp - TNNI3_000026 - PubMed: Mogensen 2004 - rs28934871 Germline no 1/280 cases - - - DNA SEQ - - CMH - PubMed: Mogensen 2004 4-generation family, 2 affecteds, 3 asymptomatic carrier - - Denmark white - - - - 5 Johan den Dunnen
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A - - TNNI3_000026 - PubMed: Millat 2010 - rs28934871 Unknown yes 1/192 cases - - - DNA SEQ - - CMH - PubMed: Millat 2010 - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A - - TNNI3_000026 shared 0.5M Dutch haplotype PubMed: van den Wijngaard 2011 - rs28934871 Germline ? 1/1040 CM cases - - - DNA DGGE, SEQ - - CMH - PubMed: van den Wijngaard 2011 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A - - TNNI3_000026 shared 0.5M Dutch haplotype PubMed: van den Wijngaard 2011 - rs28934871 Unknown ? 1/1040 CM cases - - - DNA DGGE, SEQ - - CMH - PubMed: van den Wijngaard 2011 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A - - TNNI3_000026 shared 0.5M Dutch haplotype PubMed: van den Wijngaard 2011 - rs28934871 Unknown ? 1/1040 CM cases - - - DNA DGGE, SEQ - - CMH - PubMed: van den Wijngaard 2011 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A - - TNNI3_000026 shared 0.5M Dutch haplotype PubMed: van den Wijngaard 2011 - rs28934871 Germline ? 1/1040 CM cases - - - DNA DGGE, SEQ - - CMH - PubMed: van den Wijngaard 2011 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A - - TNNI3_000026 shared 0.5M Dutch haplotype PubMed: van den Wijngaard 2011 - rs28934871 Germline yes 1/1040 CM cases - - - DNA DGGE, SEQ - - RCM - PubMed: van den Wijngaard 2011 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A - - TNNI3_000026 shared 0.5M Dutch haplotype PubMed: van den Wijngaard 2011 - rs28934871 Unknown ? 1/1040 CM cases - - - DNA DGGE, SEQ - - CMH - PubMed: van den Wijngaard 2011 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A - - TNNI3_000026 shared 0.5M Dutch haplotype PubMed: van den Wijngaard 2011 - rs28934871 Germline yes 1/1040 CM cases - - - DNA DGGE, SEQ - - CMH - PubMed: van den Wijngaard 2011 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 7 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - pathogenic g.55665514G>A g.55154146G>A - - TNNI3_000026 shared 0.5M Dutch haplotype PubMed: van den Wijngaard 2011 - rs28934871 Germline ? 1/1040 CM cases - - - DNA DGGE, SEQ - - CMH - PubMed: van den Wijngaard 2011 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.433C>T r.(?) p.(Arg145Trp) Unknown - pathogenic g.55665514G>A g.55154146G>A TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W) - TNNI3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.433C>T r.(?) p.(Arg145Trp) Unknown - pathogenic g.55665514G>A g.55154146G>A - - TNNI3_000026 - PubMed: Walsh 2017 - - Germline - 10/3135 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 10 Johan den Dunnen
+/. - c.433C>T r.(?) p.(Arg145Trp) Unknown - pathogenic g.55665514G>A g.55154146G>A - - TNNI3_000026 - PubMed: Walsh 2017 - - Germline - 3/2912 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 3 Johan den Dunnen
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