Unique variants in 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.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
?/. 1 1i c.-18-482G>A - r.(?) p.(=) g.1943605G>A - - - TNNT3_000002 - - - rs1398256 Germline - - - - - Johan den Dunnen
?/. 1 1i c.-18-379C>A - r.(?) p.(=) g.1943708C>A - - - TNNT3_000003 - - - rs2334385 Germline - - - - - Johan den Dunnen
?/. 1 2i c.18-76A>G - r.(?) p.(=) g.1944202A>G - - - TNNT3_000004 - - - rs965912 Germline - - - - - Johan den Dunnen
?/. 1 3i c.32-149A>T - r.(?) p.(=) g.1944636A>T - - - TNNT3_000005 - - - rs2734500 Germline - - - - - Johan den Dunnen
?/. 1 - c.50-9G>A ACMG: 3 r.(?) p.? g.1946320G>A - - - TNNT3_000016 1 more item - - rs776049768 Germline - - - - - Andreas Laner
+/. 1 10 c.187C>A - r.(?) p.(Arg63Ser) g.1954966C>A - - - TNNT3_000012 - PubMed: Beck 2013 - - Germline - - - - - Johan den Dunnen
+/. 4 10 c.187C>T pathogenic r.(?) p.(Arg63Cys) g.1954966C>T - - - TNNT3_000010 VKGL data sharing initiative Nederland, not in 200 control chromosomes PubMed: Zhao 2011, PubMed: Beck 2013 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Johan den Dunnen
+/. 12 10 c.188G>A pathogenic r.(?) p.(Arg63His) g.1954967G>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, not in 488 control chromosomes, 1 more item PubMed: Gurnett 2009, OMIM:var0001, PubMed: Sung 2003, OMIM:var0001, PubMed: Beck 2013 - - CLASSIFICATION record, De novo, Germline - - - - - VKGL-NL_AMC, Johan den Dunnen, VKGL-NL_Rotterdam
?/. 1 11 c.328C>T - r.(?) p.(Arg110Cys) g.1955200C>T - - - TNNT3_000009 - - - - Germline - - - - - Tom Winder
-/. 1 - c.367-16A>G benign r.(=) p.(=) g.1955546A>G - TNNT3(NM_001297646.2):c.343-16A>G - TNNT3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.367-9T>C benign r.(=) p.(=) g.1955553T>C - TNNT3(NM_006757.3):c.367-9T>C - TNNT3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 12 c.414G>A - r.(?) p.(Glu138=) g.1955609G>A - - - TNNT3_000006 - - - rs2292470 Germline - - - - - Johan den Dunnen
?/., -/. 2 14 c.636T>C benign r.(?) p.(Ile212=), p.(=) g.1956104T>C - TNNT3(NM_001297646.2):c.612T>C (p.I204=) - TNNT3_000007 VKGL data sharing initiative Nederland - - rs16927166 Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL
+/. 1 14i c.681+1G>A - r.spl p.0? g.1956150G>A g.1934920G>A - - TNNT3_000011 - - - - Germline - - - - - Mark Davis
-?/. 1 - c.723-15G>C likely benign r.(=) p.(=) g.1959653G>C - TNNT3(NM_001297646.1):c.699-15G>C - TNNT3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -/. 3 16 c.762C>T benign r.(?) p.(Gly254=), p.(=) g.1959707C>T - TNNT3(NM_006757.3):c.762C>T (p.G254=) - TNNT3_000008 VKGL data sharing initiative Nederland - - rs4727 Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_AMC, VKGL-NL_Groningen
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