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.

14 entries on 1 page. Showing entries 1 - 14.
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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     
-?/. 122i c.31763-1G>A r.spl? p.? Parent #1 - likely benign g.179554624C>T g.178689897C>T - - TTN_000691 - PubMed: Roberts 2015, Journal: Roberts 2015 - - Germline - 1/667 controls - - - DNA SEQ - - Healthy/Control - PubMed: Roberts 2015, Journal: Roberts 2015 667 controls Women’s Health Initiative - - United States European - - - - 1 Johan den Dunnen
?/. 122i c.31763-1G>A r.spl p.? Parent #1 - VUS g.179554624C>T g.178689897C>T - - TTN_000691 - PubMed: Roberts 2015, Journal: Roberts 2015 - - Germline - 1/374 cases DCM - - - DNA SEQ - - CMD - PubMed: Roberts 2015, Journal: Roberts 2015 374 individuals UK prospective DCM cohort - - United Kingdom (Great Britain) European - - - - 1 Johan den Dunnen
?/. 122i c.31763-1G>A r.spl p.? Unknown - VUS g.179554624C>T g.178689897C>T NM_133378:c.G28031-1G>A - TTN_000691 - 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.31763-1G>A r.spl? p.? Unknown - VUS g.179554624C>T g.178689897C>T TTN(NM_001256850.1):c.30812-1G>A (p.(=)), TTN(NM_001267550.1):c.31763-1G>A, TTN(NM_001267550.2):c.31763-1G>A, TTN(NM_133432.3):c.13658-47580G>A - TTN_000691 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 122i c.31763-1G>A r.spl p.? Unknown - VUS g.179554624C>T g.178689897C>T - - TTN_000691 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs202234172 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMD - PubMed: Verhagen 2018, Journal: Verhagen 2018 sudden death son 20y F - Netherlands white - - yes - 1 Judith Verhagen
-?/. - c.31763-1G>A r.spl? p.? Unknown - likely benign g.179554624C>T g.178689897C>T TTN(NM_001256850.1):c.30812-1G>A (p.(=)), TTN(NM_001267550.1):c.31763-1G>A, TTN(NM_001267550.2):c.31763-1G>A, TTN(NM_133432.3):c.13658-47580G>A - TTN_000691 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31763-1G>A r.spl? p.? Unknown - likely benign g.179554624C>T g.178689897C>T TTN(NM_001256850.1):c.30812-1G>A (p.(=)), TTN(NM_001267550.1):c.31763-1G>A, TTN(NM_001267550.2):c.31763-1G>A, TTN(NM_133432.3):c.13658-47580G>A - TTN_000691 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31763-1G>A r.spl? p.? Unknown - VUS g.179554624C>T g.178689897C>T TTN(NM_001256850.1):c.30812-1G>A (p.(=)), TTN(NM_001267550.1):c.31763-1G>A, TTN(NM_001267550.2):c.31763-1G>A, TTN(NM_133432.3):c.13658-47580G>A - TTN_000691 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31763-1G>A r.spl? p.? Unknown - VUS g.179554624C>T g.178689897C>T TTN(NM_001256850.1):c.30812-1G>A (p.(=)), TTN(NM_001267550.1):c.31763-1G>A, TTN(NM_001267550.2):c.31763-1G>A, TTN(NM_133432.3):c.13658-47580G>A - TTN_000691 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31763-1G>A r.spl? p.? Unknown - VUS g.179554624C>T g.178689897C>T TTN(NM_001256850.1):c.30812-1G>A (p.(=)), TTN(NM_001267550.1):c.31763-1G>A, TTN(NM_001267550.2):c.31763-1G>A, TTN(NM_133432.3):c.13658-47580G>A - TTN_000691 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 122i c.31763-1G>A r.spl p.? Parent #1 ACMG VUS g.179554624C>T g.178689897C>T - - TTN_000691 ACMG PVS1, PP1, PP3 PubMed: Vissing 2021 VCV000046855.4 - Germline - - - - - DNA SEQ - - CMD - PubMed: Vissing 2021 family, 2 affected F - Denmark - - - - - 2 Johan den Dunnen
?/. 122i c.31763-1G>A r.spl p.? Parent #1 ACMG VUS g.179554624C>T g.178689897C>T - - TTN_000691 ACMG PVS1, PP1, PP3 PubMed: Vissing 2021 VCV000046855.4 rs2615498 Germline - - - - - DNA SEQ - - CMD - PubMed: Vissing 2021 relative M - Denmark - - - - - 1 Johan den Dunnen
?/. - c.31763-1G>A r.spl? p.? Unknown - VUS g.179554624C>T - TTN(NM_001256850.1):c.30812-1G>A (p.(=)), TTN(NM_001267550.1):c.31763-1G>A, TTN(NM_001267550.2):c.31763-1G>A, TTN(NM_133432.3):c.13658-47580G>A - TTN_000691 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31763-1G>A r.(?) p.(?) Unknown - likely benign g.179554624C>T - - - TTN_000691 - - - rs202234172 Unknown - - - - - - - - - - - - - - - - - - - - - - -
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