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.

16 entries on 1 page. Showing entries 1 - 16.
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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.39974-11T>G r.(?) p.(=) Unknown ACMG VUS g.179514069A>C g.178649342A>C - - TTN_003625 ACMG grading: PM2,PP3; MaxEntScan and SpliceSiteFinder predict loss of Splice-Akzeptor site - - rs758597536 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+/. 213i c.39974-11T>G r.[39973_39974ins39974-10_39974-1, 39974_40057del] p.[Val13325Aspfs*6, Glu13327_Pro13354del] Maternal (confirmed) - likely pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Bryen 2019, Journal: Bryen 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ-NG quadriceps PathWest NMD panel arthrogryposis, MYOP FamAPatII1 PubMed: Bryen 2019, Journal: Bryen 2019, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 Terminated pregnancy at 26 weeks gestation F no Australia white 00y00m00d00h - - none 1 Sandra Cooper
+/. 213i c.39974-11T>G r.[39973_39974ins39974-10_39974-1, 39974_40057del] p.[Val13325Aspfs*6, Glu13327_Pro13354del] Maternal (confirmed) - likely pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Bryen 2019, Journal: Bryen 2019 - - Germline yes - - - - DNA SEQ-NG Blood PathWest NMD panel arthrogryposis, MYOP FamCPatII1 PubMed: Bryen 2019, Journal: Bryen 2019 - M no Australia white >02y - - - 1 Sandra Cooper
+/. 213i c.39974-11T>G r.spl p.(=) Maternal (confirmed) - likely pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Bryen 2019, Journal: Bryen 2019 - rs758597536 Germline yes - - - - DNA, RNA RT-PCR, SEQ-NG vastus lateralis WES arthrogryposis, MYOP FamDPatII1 PubMed: Bryen 2019, Journal: Bryen 2019 - M no United States white >13y - - - 1 Sandra Cooper
+/. 213i c.39974-11T>G r.[39973_39974ins39974-10_39974-1, 39974_40057del] p.[Val13325Aspfs*6, Glu13327_Pro13354del] Paternal (confirmed) - likely pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Bryen 2019, Journal: Bryen 2019 - rs758597536 Germline yes - - - - DNA SEQ-NG - WES arthrogryposis, MYOP FamEPatII1 PubMed: Bryen 2019, Journal: Bryen 2019 - M no Denmark white >22y - - - 1 Sandra Cooper
+/. 213i c.39974-11T>G r.[39973_39974ins39974-10_39974-1, 39974_40057del] p.[Val13325Aspfs*6, Glu13327_Pro13354del] Paternal (confirmed) - likely pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Bryen 2019, Journal: Bryen 2019 - rs758597536 Germline yes - - - - DNA SEQ-NG - WES arthrogryposis, MYOP FamFPatII1 PubMed: Bryen 2019, Journal: Bryen 2019 - M no Belgium white >30y - - - 2 Sandra Cooper
+/. 213i c.39974-11T>G r.[39973_39974ins39974-10_39974-1, 39974_40057del] p.[Val13325Aspfs*6, Glu13327_Pro13354del] Paternal (confirmed) - likely pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Bryen 2019, Journal: Bryen 2019 - rs758597536 Germline yes - - - - DNA SEQ-NG - - arthrogryposis, MYOP FamFPatII2 PubMed: Bryen 2019, Journal: Bryen 2019 - M no Belgium white >35y - - - 1 Sandra Cooper
+/. 213i c.39974-11T>G r.[39973_39974ins39974-10_39974-1, 39974_40057del] p.[Val13325Aspfs*6, Glu13327_Pro13354del] Paternal (confirmed) - likely pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Bryen 2019, Journal: Bryen 2019 - rs758597536 Germline yes - - - - DNA SEQ-NG - WES arthrogryposis, MYOP FamGPatII1 PubMed: Bryen 2019, Journal: Bryen 2019 - F no United States Hispanic >02y - - - 1 Sandra Cooper
+/. 213i c.39974-11T>G r.39973_39974ins39974-10_39974-1, r.39974_40057del p.Val13325Aspfs*6, p.Glu13327_Pro13354del Paternal (confirmed) - likely pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Bryen 2019, Journal: Bryen 2019 - rs758597536 Germline yes - - - - DNA SEQ-NG - WES arthrogryposis, MYOP FamHPatII1 PubMed: Bryen 2019, Journal: Bryen 2019 - F no England white 02y - - - 2 Sandra Cooper
+/. 213i c.39974-11T>G r.39973_39974ins39974-10_39974-1, r.39974_40057del p.Val13325Aspfs*6, p.Glu13327_Pro13354del Paternal (confirmed) - likely pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Bryen 2019, Journal: Bryen 2019 - rs758597536 Germline yes - - - - DNA SEQ-NG - WES arthrogryposis, MYOP FamHPatII2 PubMed: Bryen 2019, Journal: Bryen 2019 - F no England white >02y - - - 1 Sandra Cooper
+/. 213i c.39974-11T>G r.39973_39974ins39974-10_39974-1;r.39974_40057del p.Val13325Aspfs*6;p.Glu13327_Pro13354del Maternal (confirmed) - pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Bryen 2019, Journal: Bryen 2019 - rs758597536 Germline yes - - - - DNA SEQ-NG blood WGS MDC Pat93/FamBII1 PubMed: O'Grady 2016, PubMed: Bryen 2019, Journal: Bryen 2019 2-generation family, unaffected heterozygous carrier parents M - Australia - >17y - - - 1 Sandra Cooper
+/. - c.39974-11T>G r.spl p.? Parent #1 ACMG pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - ? D18-0091 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/. - c.39974-11T>G r.spl p.? Unknown - pathogenic g.179514069A>C - - - TTN_003625 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.39974-11T>G r.spl p.? Parent #2 - pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Falb 2023, Journal: Falb 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam12PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, 1 affected F - Germany - - - - - 1 Johan den Dunnen
+/. - c.39974-11T>G r.spl p.? Parent #2 - pathogenic (recessive) g.179514069A>C g.178649342A>C - - TTN_003625 - PubMed: Falb 2023, Journal: Falb 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam13PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, 1 affected F - Germany - - - - - 1 Johan den Dunnen
+/. - c.39974-11T>G r.(=) p.(=) Unknown - pathogenic g.179514069A>C - TTN(NM_001267550.2):c.39974-11T>G - TTN_003625 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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