Full data view for gene TNNT3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_006757.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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     
?/. 1i c.-18-482G>A r.(?) p.(=) Parent #1 - VUS g.1943605G>A g.1922375G>A - - TNNT3_000002 - - - rs1398256 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.-18-379C>A r.(?) p.(=) Parent #1 - VUS g.1943708C>A g.1922478C>A - - TNNT3_000003 - - - rs2334385 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2i c.18-76A>G r.(?) p.(=) Parent #1 - VUS g.1944202A>G g.1922972A>G - - TNNT3_000004 - - - rs965912 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3i c.32-149A>T r.(?) p.(=) Parent #1 - VUS g.1944636A>T g.1923406A>T - - TNNT3_000005 - - - rs2734500 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.50-9G>A r.(?) p.(=) Unknown ACMG VUS g.1946320G>A g.1925090G>A - - TNNT3_000016 ACMG grading: PM2,PP3; MaxEntScan and SSF imply weakening of physiological SA site; not functional data available - - rs776049768 Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
+?/. - c.82+1G>A r.spl p.? Unknown - likely pathogenic g.1947940G>A g.1926710G>A - - TNNT3_000018 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 2 Johan den Dunnen
+/. 10 c.187C>A r.(?) p.(Arg63Ser) Parent #1 - pathogenic g.1954966C>A g.1933736C>A - - TNNT3_000012 - PubMed: Beck 2013 - - Germline - - - 0 - DNA SEQ - - DA 23401156-e1 PubMed: Beck 2013 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.187C>T r.(?) p.(Arg63Cys) Unknown - pathogenic g.1954966C>T g.1933736C>T - - TNNT3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 10 c.187C>T r.(?) p.(Arg63Cys) Parent #1 - pathogenic g.1954966C>T g.1933736C>T - - TNNT3_000010 not in 200 control chromosomes PubMed: Zhao 2011 - - Germline - - - 0 - DNA SEQ - - DA - PubMed: Zhao 2011 3-generation family, 5 affecteds - - China - - 0 - - 5 Johan den Dunnen
+/. 10 c.187C>T r.(?) p.(Arg63Cys) Parent #1 - pathogenic g.1954966C>T g.1933736C>T - - TNNT3_000010 - PubMed: Beck 2013 - - Germline - - - 0 - DNA SEQ - - DA 23401156-f2 PubMed: Beck 2013 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 10 c.187C>T r.(?) p.(Arg63Cys) Parent #1 - pathogenic g.1954966C>T g.1933736C>T - - TNNT3_000010 - PubMed: Beck 2013 - - Germline - - - 0 - DNA SEQ - - DA 23401156-f1 PubMed: Beck 2013 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.188G>A r.(?) p.(Arg63His) Unknown - pathogenic g.1954967G>A g.1933737G>A TNNT3(NM_001297646.1):c.164G>A (p.R55H), TNNT3(NM_001297646.2):c.164G>A (p.R55H) - TNNT3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 10 c.188G>A r.(?) p.(Arg63His) Parent #1 - pathogenic g.1954967G>A g.1933737G>A - - TNNT3_000001 - PubMed: Gurnett 2009, OMIM:var0001 - - De novo - - - 0 - DNA SEQ - - DA - PubMed: Gurnett 2009 variant not present in unaffected relatives F - United States - - 0 - - 1 Johan den Dunnen
+/. 10 c.188G>A r.(?) p.(Arg63His) Maternal (confirmed) - pathogenic g.1954967G>A g.1933737G>A - - TNNT3_000001 not in 488 control chromosomes PubMed: Sung 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - DA - PubMed: Sung 2003, OMIM:var0001 daugther of 12865991-I.1 F - United States - - 0 - - 1 Johan den Dunnen
+/. 10 c.188G>A r.(?) p.(Arg63His) Maternal (confirmed) - pathogenic g.1954967G>A g.1933737G>A - - TNNT3_000001 not in 488 control chromosomes PubMed: Sung 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - DA - PubMed: Sung 2003, OMIM:var0001 daugther of 12865991-I.1 F - United States - - 0 - - 1 Johan den Dunnen
+/. 10 c.188G>A r.(?) p.(Arg63His) Parent #1 - pathogenic g.1954967G>A g.1933737G>A - - TNNT3_000001 not in 488 control chromosomes; unaffecteds parents, suspected de novo; conserved in all TNNT's; pathogenic change in TNNT2 PubMed: Sung 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - DA - PubMed: Sung 2003, OMIM:var0001 mother of 12865991-II.1/.2 F - United States - - 0 - - 1 Johan den Dunnen
+/. 10 c.188G>A r.(?) p.(Arg63His) Parent #1 - pathogenic g.1954967G>A g.1933737G>A - - TNNT3_000001 - PubMed: Beck 2013 - - Germline - - - 0 - DNA SEQ - - DA 23401156-g2 PubMed: Beck 2013 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 10 c.188G>A r.(?) p.(Arg63His) Parent #1 - pathogenic g.1954967G>A g.1933737G>A - - TNNT3_000001 - PubMed: Beck 2013 - - Germline - - - 0 - DNA SEQ - - DA 23401156-h2 PubMed: Beck 2013 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 10 c.188G>A r.(?) p.(Arg63His) Parent #1 - pathogenic g.1954967G>A g.1933737G>A - - TNNT3_000001 - PubMed: Beck 2013 - - Germline - - - 0 - DNA SEQ - - DA 23401156-h3 PubMed: Beck 2013 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 10 c.188G>A r.(?) p.(Arg63His) Parent #1 - pathogenic g.1954967G>A g.1933737G>A - - TNNT3_000001 - PubMed: Beck 2013 - - Germline - - - 0 - DNA SEQ - - DA 23401156-h4 PubMed: Beck 2013 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 10 c.188G>A r.(?) p.(Arg63His) Parent #1 - pathogenic g.1954967G>A g.1933737G>A - - TNNT3_000001 - PubMed: Beck 2013 - - Germline - - - 0 - DNA SEQ - - DA 23401156-g1 PubMed: Beck 2013 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 10 c.188G>A r.(?) p.(Arg63His) Parent #1 - pathogenic g.1954967G>A g.1933737G>A - - TNNT3_000001 - PubMed: Beck 2013 - - Germline - - - 0 - DNA SEQ - - DA 23401156-h1 PubMed: Beck 2013 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.188G>A r.(?) p.(Arg63His) Unknown - pathogenic g.1954967G>A g.1933737G>A TNNT3(NM_001297646.1):c.164G>A (p.R55H), TNNT3(NM_001297646.2):c.164G>A (p.R55H) - TNNT3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206T>C r.(?) p.(Met69Thr) Unknown - VUS g.1954985T>C - TNNT3(NM_001367851.1):c.2T>C (p.M1?) - TNNT3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.328C>T r.(?) p.(Arg110Cys) Parent #1 - VUS g.1955200C>T g.1933970C>T - - TNNT3_000009 - - - - Germline - - - 0 - DNA PCR, SEQ - - DA - - - F - Canada French Canadian - 0 - - 1 Tom Winder
-/. - c.367-16A>G r.(=) p.(=) Unknown - benign g.1955546A>G g.1934316A>G TNNT3(NM_001297646.2):c.343-16A>G - TNNT3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.367-9T>C r.(=) p.(=) Unknown - benign g.1955553T>C g.1934323T>C TNNT3(NM_006757.3):c.367-9T>C - TNNT3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 12 c.414G>A r.(?) p.(Glu138=) Parent #1 - VUS g.1955609G>A g.1934379G>A - - TNNT3_000006 - - - rs2292470 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.636T>C r.(?) p.(Ile212=) Unknown - benign g.1956104T>C g.1934874T>C TNNT3(NM_001297646.2):c.612T>C (p.I204=) - TNNT3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 14 c.636T>C r.(?) p.(Ile212=) Parent #1 - VUS g.1956104T>C g.1934874T>C - - TNNT3_000007 - - - rs16927166 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.636T>C r.(=) p.(=) Parent #1 - likely benign g.1956104T>C g.1934874T>C - - TNNT3_000007 247 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16927166 Germline - 247/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 247 Mohammed Faruq
-?/. - c.636T>C r.(=) p.(=) Both (homozygous) - likely benign g.1956104T>C g.1934874T>C - - TNNT3_000007 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16927166 Germline - 7/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 7 Mohammed Faruq
+/. 14i c.681+1G>A r.[591_681del,681_682ins[a;681+1_682-1],681_682ins[a;681+1_?]] p.0? Both (homozygous) - pathogenic (recessive) g.1956150G>A g.1934920G>A - - TNNT3_000011 effect on splicing reported generating transcripts with exon 14 skipping (ex13-15 and ex13-15b) and intron 14 retention PubMed: Sandaradura 2018, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - DNA SEQ-NG - Custom neuromuscular gene panel arthrogryposis patient PubMed: Sandaradura 2018, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - M no Australia Aboriginal/white;white - 0 - - 1 Mark Davis
-?/. - c.723-15G>C r.(=) p.(=) Unknown - likely benign g.1959653G>C g.1938423G>C TNNT3(NM_001297646.1):c.699-15G>C - TNNT3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.762C>T r.(?) p.(Gly254=) Unknown - benign g.1959707C>T g.1938477C>T TNNT3(NM_006757.3):c.762C>T (p.G254=) - TNNT3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.762C>T r.(?) p.(Gly254=) Unknown - benign g.1959707C>T g.1938477C>T TNNT3(NM_006757.3):c.762C>T (p.G254=) - TNNT3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 16 c.762C>T r.(?) p.(Gly254=) Parent #1 - VUS g.1959707C>T g.1938477C>T - - TNNT3_000008 - - - rs4727 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
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