Full data view for gene TNNT2

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

23 entries on 1 page. Showing entries 1 - 23.
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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.274C>T r.(?) p.(Arg92Trp) Unknown - VUS g.201334426G>A g.201365298G>A NM_001001432:c.C259T(R92W) - TNNT2_000012 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
./. - c.274C>T r.(?) p.(Arg92Trp) Unknown - VUS g.201334426G>A g.201365298G>A NM_001001432:c.C259T(R92W) - TNNT2_000012 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.274C>T r.(?) p.(Arg92Trp) Unknown - pathogenic g.201334426G>A g.201365298G>A TNNT2(NM_001276347.2):c.274C>T (p.R92W) - TNNT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A 286C>T - TNNT2_000012 not in 200 control chromosomes PubMed: Moolman 1997 - - Germline yes - MspI- - - DNA PCR, SEQ - - CMH - PubMed: Moolman 1997 4-generation family, 5 affecteds, 9 unaffected carriers, 6 sudden death cases - - South Africa mixed - - - - 9 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A 286C>T - TNNT2_000012 not in 200 control chromosomes PubMed: Moolman 1997 - - Germline yes - MspI- - - DNA PCR, SEQ - - CMH - PubMed: Moolman 1997 4-generation family, 1 affected, 4 unaffected carriers, 1 sudden death - - South Africa mixed - - - - 5 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A 286C>T - TNNT2_000012 not in 200 control chromosomes PubMed: Fujino 2001, PubMed: Shimizu 2003 - - Germline yes - MvaI+ - - DNA PCR, SEQ - - CMH - PubMed: Fujino 2001, PubMed: Shimizu 2003 3-generation family, 8 affecteds - no Japan - - - - - 8 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A 286C>T - TNNT2_000012 not in 200 control chromosomes PubMed: Fujino 2001 - - Germline yes - MvaI+ - - DNA PCR, SEQ - - CM - PubMed: Fujino 2001 3-generation family, 2 affecteds - no Japan - - - - - 2 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A Arg92Trp - TNNT2_000012 not in 180 control chromosomes PubMed: Varnava 2001 - - Germline yes 1/50 cases - - - DNA PCR, SEQ - - CMH - PubMed: Varnava 2001 - M - United Kingdom (Great Britain) - 22y - - - 1 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A Arg92Trp - TNNT2_000012 not in 180 control chromosomes PubMed: Varnava 2001 - - Germline yes 1/50 cases - - - DNA PCR, SEQ - - CMH - PubMed: Varnava 2001 - F - United Kingdom (Great Britain) - 6y - - - 1 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A R92W - TNNT2_000012 - PubMed: Van Driest 2003 - - Germline yes 1/389 cases - - - DNA DHPLC, PCR, SEQ - - CMH - PubMed: Driest 2003 - F - United States - >27y - - - 1 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A Arg92Trp - TNNT2_000012 - PubMed: Konno 2005 - - Germline yes 1/21 cases - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Konno 2005 family, 8 affected - - Japan - - - - - 8 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A R92W - TNNT2_000012 - PubMed: Revera 2007, PubMed: Revera 2008, PubMed: Heradien 2009 - - Germline yes - - - - DNA PCR, SEQ - - CMH - PubMed: Revera 2007 4 affetecds studied - - South Africa - - - - - 17 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A R92W - TNNT2_000012 - PubMed: Heradien 2009 - - Germline yes - - - - DNA PCR, SEQ - - CMH - PubMed: Heradien 2009 1 affetecd studied - - South Africa - - - - - 1 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A R92W - TNNT2_000012 - PubMed: Heradien 2009 - - Germline yes - - - - DNA PCR, SEQ - - CMH - PubMed: Heradien 2009 2 affetecds studied - - South Africa - - - - - 2 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A R92W - TNNT2_000012 - PubMed: Heradien 2009 - - Germline yes - - - - DNA PCR, SEQ - - CMH - PubMed: Heradien 2009 2 affetecds studied - - South Africa - - - - - 2 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A 8772C>T (R92W) - TNNT2_000012 not in 128 control chromosomes PubMed: Marsiglia 2010 - - Germline yes 1/20 cases - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Marsiglia 2010 - - - Brazil - - - - - 1 Peikuan Cong
+/. 9 c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A Arg92Trp - TNNT2_000012 - PubMed: Ho 2009 - - Germline yes - - - - DNA SEQ - - CMH - PubMed: Ho 2009 - - - Denmark - - - - - 2 Johan den Dunnen
+/. - c.274C>T r.(?) p.(Arg92Trp) Unknown - pathogenic g.201334426G>A g.201365298G>A TNNT2(NM_001276347.2):c.274C>T (p.R92W) - TNNT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.274C>T r.(?) p.(Arg92Trp) Parent #1 - pathogenic g.201334426G>A g.201365298G>A - - TNNT2_000012 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397516456 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.274C>T r.(?) p.(Arg92Trp) Unknown - pathogenic g.201334426G>A - TNNT2(NM_001276347.2):c.274C>T (p.R92W) - TNNT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.274C>T r.(?) p.(Arg92Trp) Unknown - pathogenic g.201334426G>A g.201365298G>A - - TNNT2_000012 - PubMed: Walsh 2017 - - Germline - 5/3191 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 5 Johan den Dunnen
+/. - c.274C>T r.(?) p.(Arg92Trp) Unknown - pathogenic g.201334426G>A g.201365298G>A - - TNNT2_000012 - PubMed: Walsh 2017 - - Germline - 3/2912 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 3 Johan den Dunnen
+/. - c.274C>T r.(?) p.(Arg92Trp) Unknown - pathogenic g.201334426G>A - - - TNNT2_000012 - - - rs397516456 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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