Full data view for gene TTN

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
TTN exon inclusion table.
Information The variants shown are described using the transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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     
+/+ 364 c.107780_107790delinsTGAAAGAAAAA r.(?) p.(Glu35927_Trp35930delinsValLysGluLys) Unknown - pathogenic g.179391925_179391935delinsTTTTTCTTTCA g.178527198_178527208delinsTTTTTCTTTCA AJ277892: 293268-293280 AAGTAACATGG>TGAAAGAAAAA - TTN_000004 Finnish major/founder TMD mutation, 12 Finnish TMD families; not in 216 controls (Finnish) PubMed: Hackman 2002 - rs281864927 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. 364 c.107780_107790delinsTGAAAGAAAAA r.107780_107790delinsTGAAAGAAAAA p.Glu35927_Trp35930delinsValLysGluLys Parent #1 - pathogenic g.179391925_179391935delinsTTTTTCTTTCA g.178527198_178527208delinsTTTTTCTTTCA 293269_293279delins - TTN_000004 not in 216 control chromosomes PubMed: Hackman 2002, PubMed: Haravuori, OMIM:var0004 - - Germline - - - - - DNA SEQ - - LGMDR10;LGMD2J - - 3 affecteds, homozygous - ? Finland - - - - - 3 Johan den Dunnen
+/. 364 c.107780_107790delinsTGAAAGAAAAA r.(?) p.(Glu35927_Trp35930delinsValLysGluLys) Paternal (confirmed) - pathogenic g.179391925_179391935delinsTTTTTCTTTCA g.178527198_178527208delinsTTTTTCTTTCA 100076-100086delinsTGAAAGAAAAA - TTN_000004 - PubMed: Udd 2005, PubMed: Evila 2014 - - Germline yes - - - - DNA SEQ - - LGMD - PubMed: Udd 2005, PubMed: Evila 2014 - ? no Finland - - - - - 1 Claire Chauveau
+/. 364 c.107780_107790delinsTGAAAGAAAAA r.107780_107790delinsTGAAAGAAAAA p.Glu35927_Trp35930delinsValLysGluLys Parent #2 - pathogenic g.179391925_179391935delinsTTTTTCTTTCA g.178527198_178527208delinsTTTTTCTTTCA 293269_293279delinsTGAAAGAAAAA - TTN_000004 not in 216 control chromosomes PubMed: Hackman 2002, PubMed: Haravuori, OMIM:var0004 - - Germline - - - - - DNA SEQ - - LGMDR10;LGMD2J - - 3 affecteds, homozygous - ? Finland - - - - - 3 Johan den Dunnen
+/. 364 c.107780_107790delinsTGAAAGAAAAA r.(?) p.(Glu35927_Trp35930delinsValLysGluLys) Parent #1 - pathogenic g.179391925_179391935delinsTTTTTCTTTCA g.178527198_178527208delinsTTTTTCTTTCA 293269_293279delinsTGAAAGAAAAA - TTN_000004 not in 216 control chromosomes PubMed: Hackman 2002, PubMed: Haravuori, OMIM:var0004 - - Germline - - - - - DNA SEQ - - TMD - - 78 patents 12 unrelated families - ? Finland - - - - - 78 Johan den Dunnen
+/. 364 c.107780_107790delinsTGAAAGAAAAA r.(?) p.(Glu35927_Trp35930delinsValLysGluLys) Maternal (confirmed) - pathogenic g.179391925_179391935delinsTTTTTCTTTCA g.178527198_178527208delinsTTTTTCTTTCA 100076-100086delinsTGAAAGAAAAA - TTN_000004 - PubMed: Evila 2014 - - Germline yes - - - - DNA SEQ - - ? - PubMed: Evila 2014 - M no Finland - - - - - 1 Claire Chauveau
+/. 364 c.107780_107790delinsTGAAAGAAAAA r.107780_107790delinsugaaagaaaaa p.Glu35927_Trp35930delinsValLysGluLys Maternal (confirmed) - pathogenic g.179391925_179391935delinsTTTTTCTTTCA g.178527198_178527208delinsTTTTTCTTTCA - - TTN_000004 - PubMed: Evil‰ 2014 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Evil‰ 2014 - F no Finland - - - - - 1 Claire Chauveau
+/. 364 c.107780_107790delinsTGAAAGAAAAA r.107780_107790delinsugaaagaaaaa p.Glu35927_Trp35930delinsValLysGluLys Maternal (confirmed) - pathogenic g.179391925_179391935delinsTTTTTCTTTCA g.178527198_178527208delinsTTTTTCTTTCA 100076-100086delinsTGAAAGAAAAA - TTN_000004 - PubMed: Evila 2014 - - Germline yes - - - - DNA SEQ - - LGMD - PubMed: Udd 2005, PubMed: Evila 2014 - ? no Finland - - - - - 1 Johan den Dunnen
+/. 364 c.107780_107790delinsTGAAAGAAAAA r.(?) p.Glu35927_Trp35930delinsValLysGluLys Unknown - NA g.179391925_179391935delinsTTTTTCTTTCA g.178527198_178527208delinsTTTTTCTTTCA E37V (37EVTW>VKEK) - TTN_000004 expression cloning in E.coli, biophysical in vitro characterization shows severe misfolding and no binding to obscurin Ig1-domain PubMed: Rudloff 2015, Journal: Rudloff 2015 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.107780_107790delinsTGAAAGAAAAA r.(?) p.(Glu35927_Trp35930delinsValLysGluLys) Parent #1 - pathogenic g.179391925_179391935delinsTTTTTCTTTCA g.178527198_178527208delinsTTTTTCTTTCA 100076_100086delins11 - TTN_000004 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.107780_107790delinsTGAAAGAAAAA r.(?) p.(Glu35927_Trp35930delinsValLysGluLys) Parent #1 - pathogenic g.179391925_179391935delinsTTTTTCTTTCA g.178527198_178527208delinsTTTTTCTTTCA 100076_100086delinsTGAAAGAAAAA (E33359_W33362 delinsVKEK) - TTN_000004 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 364 c.107780_107790delinsTGAAAGAAAAA r.(?) p.(Glu35927_Trp35930delinsValLysGluLys) Parent #1 - pathogenic (recessive) g.179391925_179391935delinsTTTTTCTTTCA g.178527198_178527208delinsTTTTTCTTTCA - - TTN_000004 - - - - Germline yes - - - - DNA SEQ-NG - - LGMDR10;LGMD2J - - - F no Finland - >41y - - - 1 Marco Savarese
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