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.

33 entries on 1 page. Showing entries 1 - 33.
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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.832C>T r.(?) p.(Arg278Cys) Unknown - VUS g.201328373G>A g.201359245G>A NM_001001432:c.C814T(R278C) - TNNT2_000007 - 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.832C>T r.(?) p.(Arg278Cys) Unknown - VUS g.201328373G>A g.201359245G>A NM_001001432:c.C814T(R278C) - TNNT2_000007 - 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
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A - - TNNT2_000007 - PubMed: Cecconi 2016, Journal: Cecconi 2016 - - Germline - reads 0.6 - - - DNA SEQ-NG-I - - CMH Pat94 PubMed: Cecconi 2016, Journal: Cecconi 2016 - F - Italy - - - - - 1 Domenico Coviello
+?/. - c.832C>T r.(?) p.(Arg278Cys) Unknown - likely pathogenic g.201328373G>A g.201359245G>A TNNT2(NM_001001430.1):c.832C>T (p.R278C), TNNT2(NM_001001430.2):c.832C>T (p.(Arg278Cys)), TNNT2(NM_001276347.2):c.832C>T (p.R278C) - TNNT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.832C>T r.(?) p.(Arg278Cys) Unknown - likely pathogenic g.201328373G>A g.201359245G>A TNNT2(NM_001001430.1):c.832C>T (p.R278C), TNNT2(NM_001001430.2):c.832C>T (p.(Arg278Cys)), TNNT2(NM_001276347.2):c.832C>T (p.R278C) - TNNT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.832C>T r.(?) p.(Arg278Cys) Unknown - likely pathogenic g.201328373G>A g.201359245G>A TNNT2(NM_001001430.1):c.832C>T (p.R278C), TNNT2(NM_001001430.2):c.832C>T (p.(Arg278Cys)), TNNT2(NM_001276347.2):c.832C>T (p.R278C) - TNNT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.832C>T r.(?) p.Arg278Cys Unknown - NA g.201328373G>A g.201359245G>A Arg278Cys - TNNT2_000007 expression cloning no Ca2+–sensitizing effect {PMID10085122:Yanaga 1999} - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.832C>T r.853c>u p.Arg278Cys Parent #1 - pathogenic g.201328373G>A g.201359245G>A 844C>T - TNNT2_000007 not in 200 control chromosomes PubMed: Watkins 1995 - rs121964857 Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ - - CMH - PubMed: Watkins 1995 - - no United States - - - - - 3 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A Arg278Cys - TNNT2_000007 - PubMed: Elliott 1999 - rs121964857 Germline yes - - - - DNA PCR, SEQ - - CMH - PubMed: Elliott 1999 - M - United Kingdom (Great Britain) - - - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A R278C - TNNT2_000007 - PubMed: Van Driest 2003 - rs121964857 Germline yes 1/389 cases - - - DNA DHPLC, PCR, SEQ - - CMH - PubMed: Driest 2003 - M - United States - >57y - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A R278C - TNNT2_000007 - PubMed: Van Driest 2003 - rs121964857 Germline yes 1/389 cases - - - DNA DHPLC, PCR, SEQ - - CMH - PubMed: Driest 2003 - M - United States - >66y - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A R278C - TNNT2_000007 - PubMed: Van Driest 2003 - rs121964857 Germline yes 1/389 cases - - - DNA DHPLC, PCR, SEQ - - CMH - PubMed: Driest 2003 - M - United States - >74y - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A 19159C>T (Arg278Cys) - TNNT2_000007 not in 200 control chromosomes PubMed: Garcia-Castro 2003 - rs121964857 Germline yes 1/30 cases - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Garcia-Castro 2003 3-generation family, 1 affected F no Spain - - - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A 19159C>T (Arg278Cys) - TNNT2_000007 not in 200 control chromosomes PubMed: Garcia-Castro 2003 - rs121964857 Germline yes 1/30 cases - - - DNA PCR, SSCA - - Healthy/Control - PubMed: Garcia-Castro 2003 3-generation family, unaffected carrier sister/daugther F no Spain - - - - - 2 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A R278C - TNNT2_000007 - PubMed: Garcia-Castro 2003 - rs121964857 Germline no 1/30 cases - - - DNA PCR, SEQ - - CMH - PubMed: Garcia-Castro 2003 3-generation family, 1 affected, asymptomatic carrier sister/daugther F - Spain - >60y - - - 3 Peikuan Cong
?/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - VUS g.201328373G>A g.201359245G>A Arg278Cys - TNNT2_000007 not in 300 control chromosomes PubMed: Torricelli 2003 - rs121964857 Germline yes 1/150 cases - - - DNA DHPLC, PCR - - CMH - PubMed: Torricelli 2003 - - - Italy Tuscany - - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A Arg278Cys - TNNT2_000007 not in 200 control chromosomes PubMed: Theopistou 2004 - rs121964857 Germline ? 1/147 cases - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Theopistou 2004 5-generation family, 3 affecteds, 3 asymptomatic carriers - - Greece - - - - - 6 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A Arg278Cys - TNNT2_000007 not in 200 control chromosomes PubMed: Theopistou 2004 - rs121964857 Germline yes 1/147 cases - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Theopistou 2004 2-generation family, 1 affecteds M - Greece - - - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A Arg278Cys - TNNT2_000007 not in 200 control chromosomes PubMed: Miliou 2005 - rs121964857 Germline yes 1/143 cases - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Miliou 2005 4-generation family, 1 affected - - Greece Greek - - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A Arg278Cys - TNNT2_000007 not in 200 control chromosomes PubMed: Miliou 2005 - rs121964857 Germline yes 1/143 cases - - - DNA PCR, SEQ, SSCA - - CMH - PubMed: Miliou 2005 5-generation family, 3 affecteds, 3 asymptomatic carriers - - Greece Greek - - - - 3 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A Arg278Cys - TNNT2_000007 not in 150 controls PubMed: Ingles 2005 - rs121964857 Germline yes 1/80 cases - - - DNA DHPLC, PCR, SEQ - - CMH - PubMed: Ingles 2005 - - - Australia - - - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A 14824C>T R278C - TNNT2_000007 - PubMed: Zeller 2006 - rs121964857 Germline yes - - - - DNA DGGE, SEQ - - CMH - PubMed: Zeller 2006 - - - Germany - - - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A Arg278Cys - TNNT2_000007 not in 320 controls PubMed: Garcia-Castro 2007, PubMed: Garcia-Castro 2009 - rs121964857 Germline no 1/115 cases - - - DNA PCR, SEQ - - CMH - PubMed: Garcia-Castro 2007, PubMed: Garcia-Castro 2009 family, 1 affected, asymptomatic carrier sister/daugther F - Spain - - - - - 3 Peikuan Cong
+?/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - likely pathogenic g.201328373G>A g.201359245G>A Arg278Cys - TNNT2_000007 not in 400 control chromosomes PubMed: Kaski 2009 - rs121964857 Germline yes 1/79 cases - - - DNA PCR, SEQ - - CMH - PubMed: Kaski 2009 - - - United Kingdom (Great Britain) - - - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A C>T (Arg278Cys) - TNNT2_000007 - PubMed: Gimeno 2009 - rs121964857 Germline yes 1/127 cases - - - DNA DHPLC, SEQ - - CMH - PubMed: Gimeno 2009 - - - Spain Alicante - - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A C>T (Arg278Cys) - TNNT2_000007 seggregation with MYH7:Asp928Asn seems better PubMed: Gimeno 2009 - rs121964857 Germline ? 1/127 cases - - - DNA DHPLC, SEQ - - CMH - PubMed: Gimeno 2009 3-generation family, 4 affecteds, 1 non-carrier TNNT2 var - - Spain Murcia - - - - 4 Peikuan Cong
?/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - VUS g.201328373G>A g.201359245G>A 868C>T (Arg288Cys) - TNNT2_000007 - PubMed: Narsupalli 2010 - rs121964857 Germline yes - - - - DNA PCR, SEQ - - CMH - PubMed: Narsupalli 2010 - F - United Kingdom (Great Britain) white - - - - 1 Peikuan Cong
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A Arg278Cys - TNNT2_000007 - PubMed: Ho 2009 - rs121964857 Germline yes - - - - DNA SEQ - - CMH - PubMed: Ho 2009 - - - Denmark - - - - - 5 Johan den Dunnen
+/. 16 c.832C>T r.(?) p.(Arg278Cys) Parent #1 - pathogenic g.201328373G>A g.201359245G>A - - TNNT2_000007 - PubMed: Millat 2010 - rs121964857 Germline yes - - - - DNA PCR, SEQ - - CMH - PubMed: Millat 2010 - - - France - - - - - 4 Johan den Dunnen
+?/. - c.832C>T r.(?) p.(Arg278Cys) Unknown - likely pathogenic g.201328373G>A g.201359245G>A TNNT2(NM_001001430.1):c.832C>T (p.R278C), TNNT2(NM_001001430.2):c.832C>T (p.(Arg278Cys)), TNNT2(NM_001276347.2):c.832C>T (p.R278C) - TNNT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.832C>T r.(?) p.(Arg278Cys) Unknown - likely pathogenic g.201328373G>A - TNNT2(NM_001001430.1):c.832C>T (p.R278C), TNNT2(NM_001001430.2):c.832C>T (p.(Arg278Cys)), TNNT2(NM_001276347.2):c.832C>T (p.R278C) - TNNT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832C>T r.(?) p.(Arg278Cys) Unknown - VUS g.201328373G>A - TNNT2(NM_001001430.1):c.832C>T (p.R278C), TNNT2(NM_001001430.2):c.832C>T (p.(Arg278Cys)), TNNT2(NM_001276347.2):c.832C>T (p.R278C) - TNNT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.832C>T r.(?) p.(Arg278Cys) Unknown - likely pathogenic g.201328373G>A g.201359245G>A NM_001276345:c.862C>T - TNNT2_000007 variant not definitively linked to disease Fusco 2042, submitted 12411 rs121964857 Germline - - - - - DNA SEQ-NG blood - CM Fam144Pat161 Fusco 2042, submitted - F - Italy white - - - - 1 Carmela Fusco
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